SNP Links for Protein (Select 333470743) - SNP

Select item 14869727851.

rs1486972785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36366937 (GRCh38)
6:36334714 (GRCh37)
Canonical SPDI:: NC_000006.12:36366936:G:A
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36366937G>A, NC_000006.11:g.36334714G>A, NG_029211.1:g.25864C>T, NM_016135.4:c.846C>T, NM_016135.3:c.846C>T, NM_001207037.2:c.669C>T, NM_001207037.1:c.669C>T, NM_001207035.2:c.846C>T, NM_001207035.1:c.846C>T, NM_001207039.2:c.681C>T, NM_001207039.1:c.681C>T, NM_001207040.2:c.603C>T, NM_001207040.1:c.603C>T, NM_001207036.2:c.681C>T, NM_001207036.1:c.681C>T, NM_001207038.2:c.615C>T, NM_001207038.1:c.615C>T, NM_001207041.2:c.393C>T, NM_001207041.1:c.393C>T, XM_011514659.2:c.798C>T, XM_011514659.1:c.798C>T

Select item 14857625072.

rs1485762507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36366968 (GRCh38)
6:36334745 (GRCh37)
Canonical SPDI:: NC_000006.12:36366967:A:C
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.36366968A>C, NC_000006.11:g.36334745A>C, NG_029211.1:g.25833T>G, NM_016135.4:c.815T>G, NM_016135.3:c.815T>G, NM_001207037.2:c.638T>G, NM_001207037.1:c.638T>G, NM_001207035.2:c.815T>G, NM_001207035.1:c.815T>G, NM_001207039.2:c.650T>G, NM_001207039.1:c.650T>G, NM_001207040.2:c.572T>G, NM_001207040.1:c.572T>G, NM_001207036.2:c.650T>G, NM_001207036.1:c.650T>G, NM_001207038.2:c.584T>G, NM_001207038.1:c.584T>G, NM_001207041.2:c.362T>G, NM_001207041.1:c.362T>G, XM_011514659.2:c.767T>G, XM_011514659.1:c.767T>G, NP_057219.1:p.Val272Gly, NP_001193966.1:p.Val213Gly, NP_001193964.1:p.Val272Gly, NP_001193968.1:p.Val217Gly, NP_001193969.1:p.Val191Gly, NP_001193965.1:p.Val217Gly, NP_001193967.1:p.Val195Gly, NP_001193970.1:p.Val121Gly, XP_011512961.1:p.Val256Gly

Select item 14800692553.

rs1480069255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36371520 (GRCh38)
6:36339297 (GRCh37)
Canonical SPDI:: NC_000006.12:36371519:G:A
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000006.12:g.36371520G>A, NC_000006.11:g.36339297G>A, NG_029211.1:g.21281C>T, NM_016135.4:c.474C>T, NM_016135.3:c.474C>T, NM_001207037.2:c.297C>T, NM_001207037.1:c.297C>T, NM_001207035.2:c.474C>T, NM_001207035.1:c.474C>T, NM_001207039.2:c.309C>T, NM_001207039.1:c.309C>T, NM_001207040.2:c.231C>T, NM_001207040.1:c.231C>T, NM_001207036.2:c.309C>T, NM_001207036.1:c.309C>T, NM_001207041.2:c.21C>T, NM_001207041.1:c.21C>T, XM_011514659.2:c.426C>T, XM_011514659.1:c.426C>T

Select item 14796102924.

rs1479610292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:36373479 (GRCh38)
6:36341256 (GRCh37)
Canonical SPDI:: NC_000006.12:36373478:G:A,NC_000006.12:36373478:G:T
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36373479G>A, NC_000006.12:g.36373479G>T, NC_000006.11:g.36341256G>A, NC_000006.11:g.36341256G>T, NG_029211.1:g.19322C>T, NG_029211.1:g.19322C>A, NM_016135.4:c.407C>T, NM_016135.4:c.407C>A, NM_016135.3:c.407C>T, NM_016135.3:c.407C>A, NM_001207037.2:c.230C>T, NM_001207037.2:c.230C>A, NM_001207037.1:c.230C>T, NM_001207037.1:c.230C>A, NM_001207035.2:c.407C>T, NM_001207035.2:c.407C>A, NM_001207035.1:c.407C>T, NM_001207035.1:c.407C>A, NM_001207039.2:c.242C>T, NM_001207039.2:c.242C>A, NM_001207039.1:c.242C>T, NM_001207039.1:c.242C>A, NM_001207040.2:c.164C>T, NM_001207040.2:c.164C>A, NM_001207040.1:c.164C>T, NM_001207040.1:c.164C>A, NM_001207036.2:c.242C>T, NM_001207036.2:c.242C>A, NM_001207036.1:c.242C>T, NM_001207036.1:c.242C>A, NM_001207038.2:c.407C>T, NM_001207038.2:c.407C>A, NM_001207038.1:c.407C>T, NM_001207038.1:c.407C>A, NM_001207041.2:c.-47C>T, NM_001207041.2:c.-47C>A, NM_001207041.1:c.-47C>T, NM_001207041.1:c.-47C>A, XM_011514659.2:c.359C>T, XM_011514659.2:c.359C>A, XM_011514659.1:c.359C>T, XM_011514659.1:c.359C>A, NP_057219.1:p.Thr136Ile, NP_057219.1:p.Thr136Asn, NP_001193966.1:p.Thr77Ile, NP_001193966.1:p.Thr77Asn, NP_001193964.1:p.Thr136Ile, NP_001193964.1:p.Thr136Asn, NP_001193968.1:p.Thr81Ile, NP_001193968.1:p.Thr81Asn, NP_001193969.1:p.Thr55Ile, NP_001193969.1:p.Thr55Asn, NP_001193965.1:p.Thr81Ile, NP_001193965.1:p.Thr81Asn, NP_001193967.1:p.Thr136Ile, NP_001193967.1:p.Thr136Asn, XP_011512961.1:p.Thr120Ile, XP_011512961.1:p.Thr120Asn

Select item 14742995855.

rs1474299585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36354660 (GRCh38)
6:36322437 (GRCh37)
Canonical SPDI:: NC_000006.12:36354659:G:A
Gene:: ETV7 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36354660G>A, NC_000006.11:g.36322437G>A, NG_029211.1:g.38141C>T, NM_001207035.2:c.936C>T, NM_001207035.1:c.936C>T, NM_001207039.2:c.771C>T, NM_001207039.1:c.771C>T

Select item 14705740066.

rs1470574006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36371341 (GRCh38)
6:36339118 (GRCh37)
Canonical SPDI:: NC_000006.12:36371340:C:T
Gene:: ETV7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.36371341C>T, NC_000006.11:g.36339118C>T, NG_029211.1:g.21460G>A, NM_016135.4:c.653G>A, NM_016135.3:c.653G>A, NM_001207037.2:c.476G>A, NM_001207037.1:c.476G>A, NM_001207035.2:c.653G>A, NM_001207035.1:c.653G>A, NM_001207039.2:c.488G>A, NM_001207039.1:c.488G>A, NM_001207040.2:c.410G>A, NM_001207040.1:c.410G>A, NM_001207036.2:c.488G>A, NM_001207036.1:c.488G>A, NM_001207041.2:c.200G>A, NM_001207041.1:c.200G>A, XM_011514659.2:c.605G>A, XM_011514659.1:c.605G>A, NP_057219.1:p.Gly218Asp, NP_001193966.1:p.Gly159Asp, NP_001193964.1:p.Gly218Asp, NP_001193968.1:p.Gly163Asp, NP_001193969.1:p.Gly137Asp, NP_001193965.1:p.Gly163Asp, NP_001193970.1:p.Gly67Asp, XP_011512961.1:p.Gly202Asp

Select item 14683454217.

rs1468345421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36373577 (GRCh38)
6:36341354 (GRCh37)
Canonical SPDI:: NC_000006.12:36373576:A:C
Gene:: ETV7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0093/27 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.36373577A>C, NC_000006.11:g.36341354A>C, NG_029211.1:g.19224T>G, NM_016135.4:c.309T>G, NM_016135.3:c.309T>G, NM_001207037.2:c.132T>G, NM_001207037.1:c.132T>G, NM_001207035.2:c.309T>G, NM_001207035.1:c.309T>G, NM_001207039.2:c.144T>G, NM_001207039.1:c.144T>G, NM_001207040.2:c.66T>G, NM_001207040.1:c.66T>G, NM_001207036.2:c.144T>G, NM_001207036.1:c.144T>G, NM_001207038.2:c.309T>G, NM_001207038.1:c.309T>G, NM_001207041.2:c.-145T>G, NM_001207041.1:c.-145T>G, XM_011514659.2:c.261T>G, XM_011514659.1:c.261T>G

Select item 14637227068.

rs1463722706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:36371500 (GRCh38)
6:36339277 (GRCh37)
Canonical SPDI:: NC_000006.12:36371499:G:T
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.36371500G>T, NC_000006.11:g.36339277G>T, NG_029211.1:g.21301C>A, NM_016135.4:c.494C>A, NM_016135.3:c.494C>A, NM_001207037.2:c.317C>A, NM_001207037.1:c.317C>A, NM_001207035.2:c.494C>A, NM_001207035.1:c.494C>A, NM_001207039.2:c.329C>A, NM_001207039.1:c.329C>A, NM_001207040.2:c.251C>A, NM_001207040.1:c.251C>A, NM_001207036.2:c.329C>A, NM_001207036.1:c.329C>A, NM_001207041.2:c.41C>A, NM_001207041.1:c.41C>A, XM_011514659.2:c.446C>A, XM_011514659.1:c.446C>A, NP_057219.1:p.Pro165Gln, NP_001193966.1:p.Pro106Gln, NP_001193964.1:p.Pro165Gln, NP_001193968.1:p.Pro110Gln, NP_001193969.1:p.Pro84Gln, NP_001193965.1:p.Pro110Gln, NP_001193970.1:p.Pro14Gln, XP_011512961.1:p.Pro149Gln

Select item 14618665099.

rs1461866509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:36373509 (GRCh38)
6:36341286 (GRCh37)
Canonical SPDI:: NC_000006.12:36373508:A:T
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36373509A>T, NC_000006.11:g.36341286A>T, NG_029211.1:g.19292T>A, NM_016135.4:c.377T>A, NM_016135.3:c.377T>A, NM_001207037.2:c.200T>A, NM_001207037.1:c.200T>A, NM_001207035.2:c.377T>A, NM_001207035.1:c.377T>A, NM_001207039.2:c.212T>A, NM_001207039.1:c.212T>A, NM_001207040.2:c.134T>A, NM_001207040.1:c.134T>A, NM_001207036.2:c.212T>A, NM_001207036.1:c.212T>A, NM_001207038.2:c.377T>A, NM_001207038.1:c.377T>A, NM_001207041.2:c.-77T>A, NM_001207041.1:c.-77T>A, XM_011514659.2:c.329T>A, XM_011514659.1:c.329T>A, NP_057219.1:p.Phe126Tyr, NP_001193966.1:p.Phe67Tyr, NP_001193964.1:p.Phe126Tyr, NP_001193968.1:p.Phe71Tyr, NP_001193969.1:p.Phe45Tyr, NP_001193965.1:p.Phe71Tyr, NP_001193967.1:p.Phe126Tyr, XP_011512961.1:p.Phe110Tyr

Select item 146159937810.

rs1461599378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:36385620 (GRCh38)
6:36353397 (GRCh37)
Canonical SPDI:: NC_000006.12:36385619:G:T
Gene:: ETV7 (Varview), ETV7-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36385620G>T, NC_000006.11:g.36353397G>T, NG_029211.1:g.7181C>A, NM_016135.4:c.56C>A, NM_016135.3:c.56C>A, NM_001207037.2:c.-163C>A, NM_001207037.1:c.-163C>A, NM_001207035.2:c.56C>A, NM_001207035.1:c.56C>A, NM_001207039.2:c.56C>A, NM_001207039.1:c.56C>A, NM_001207036.2:c.56C>A, NM_001207036.1:c.56C>A, NM_001207038.2:c.56C>A, NM_001207038.1:c.56C>A, XM_011514659.2:c.8C>A, XM_011514659.1:c.8C>A, NP_057219.1:p.Pro19His, NP_001193964.1:p.Pro19His, NP_001193968.1:p.Pro19His, NP_001193965.1:p.Pro19His, NP_001193967.1:p.Pro19His, XP_011512961.1:p.Pro3His

Select item 145763664011.

rs1457636640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36368986 (GRCh38)
6:36336763 (GRCh37)
Canonical SPDI:: NC_000006.12:36368985:G:A
Gene:: ETV7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36368986G>A, NC_000006.11:g.36336763G>A, NG_029211.1:g.23815C>T, NM_016135.4:c.750C>T, NM_016135.3:c.750C>T, NM_001207037.2:c.573C>T, NM_001207037.1:c.573C>T, NM_001207035.2:c.750C>T, NM_001207035.1:c.750C>T, NM_001207039.2:c.585C>T, NM_001207039.1:c.585C>T, NM_001207040.2:c.507C>T, NM_001207040.1:c.507C>T, NM_001207036.2:c.585C>T, NM_001207036.1:c.585C>T, NM_001207038.2:c.519C>T, NM_001207038.1:c.519C>T, NM_001207041.2:c.297C>T, NM_001207041.1:c.297C>T, XM_011514659.2:c.702C>T, XM_011514659.1:c.702C>T

Select item 145670325812.

rs1456703258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36368929 (GRCh38)
6:36336706 (GRCh37)
Canonical SPDI:: NC_000006.12:36368928:C:T
Gene:: ETV7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36368929C>T, NC_000006.11:g.36336706C>T, NG_029211.1:g.23872G>A, NM_016135.4:c.807G>A, NM_016135.3:c.807G>A, NM_001207037.2:c.630G>A, NM_001207037.1:c.630G>A, NM_001207035.2:c.807G>A, NM_001207035.1:c.807G>A, NM_001207039.2:c.642G>A, NM_001207039.1:c.642G>A, NM_001207040.2:c.564G>A, NM_001207040.1:c.564G>A, NM_001207036.2:c.642G>A, NM_001207036.1:c.642G>A, NM_001207038.2:c.576G>A, NM_001207038.1:c.576G>A, NM_001207041.2:c.354G>A, NM_001207041.1:c.354G>A, XM_011514659.2:c.759G>A, XM_011514659.1:c.759G>A

Select item 144995586613.

rs1449955866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36371440 (GRCh38)
6:36339217 (GRCh37)
Canonical SPDI:: NC_000006.12:36371439:C:T
Gene:: ETV7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36371440C>T, NC_000006.11:g.36339217C>T, NG_029211.1:g.21361G>A, NM_016135.4:c.554G>A, NM_016135.3:c.554G>A, NM_001207037.2:c.377G>A, NM_001207037.1:c.377G>A, NM_001207035.2:c.554G>A, NM_001207035.1:c.554G>A, NM_001207039.2:c.389G>A, NM_001207039.1:c.389G>A, NM_001207040.2:c.311G>A, NM_001207040.1:c.311G>A, NM_001207036.2:c.389G>A, NM_001207036.1:c.389G>A, NM_001207041.2:c.101G>A, NM_001207041.1:c.101G>A, XM_011514659.2:c.506G>A, XM_011514659.1:c.506G>A, NP_057219.1:p.Gly185Asp, NP_001193966.1:p.Gly126Asp, NP_001193964.1:p.Gly185Asp, NP_001193968.1:p.Gly130Asp, NP_001193969.1:p.Gly104Asp, NP_001193965.1:p.Gly130Asp, NP_001193970.1:p.Gly34Asp, XP_011512961.1:p.Gly169Asp

Select item 144898663214.

rs1448986632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:36354681 (GRCh38)
6:36322458 (GRCh37)
Canonical SPDI:: NC_000006.12:36354680:T:A
Gene:: ETV7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.36354681T>A, NC_000006.11:g.36322458T>A, NG_029211.1:g.38120A>T, NM_001207035.2:c.915A>T, NM_001207035.1:c.915A>T, NM_001207039.2:c.750A>T, NM_001207039.1:c.750A>T

Select item 144848660615.

rs1448486606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36369031 (GRCh38)
6:36336808 (GRCh37)
Canonical SPDI:: NC_000006.12:36369030:A:C
Gene:: ETV7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.36369031A>C, NC_000006.11:g.36336808A>C, NG_029211.1:g.23770T>G, NM_016135.4:c.705T>G, NM_016135.3:c.705T>G, NM_001207037.2:c.528T>G, NM_001207037.1:c.528T>G, NM_001207035.2:c.705T>G, NM_001207035.1:c.705T>G, NM_001207039.2:c.540T>G, NM_001207039.1:c.540T>G, NM_001207040.2:c.462T>G, NM_001207040.1:c.462T>G, NM_001207036.2:c.540T>G, NM_001207036.1:c.540T>G, NM_001207038.2:c.474T>G, NM_001207038.1:c.474T>G, NM_001207041.2:c.252T>G, NM_001207041.1:c.252T>G, XM_011514659.2:c.657T>G, XM_011514659.1:c.657T>G

Select item 144574541716.

rs1445745417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36385649 (GRCh38)
6:36353426 (GRCh37)
Canonical SPDI:: NC_000006.12:36385648:A:G
Gene:: ETV7 (Varview), ETV7-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36385649A>G, NC_000006.11:g.36353426A>G, NG_029211.1:g.7152T>C, NM_016135.4:c.27T>C, NM_016135.3:c.27T>C, NM_001207037.2:c.-192T>C, NM_001207037.1:c.-192T>C, NM_001207035.2:c.27T>C, NM_001207035.1:c.27T>C, NM_001207039.2:c.27T>C, NM_001207039.1:c.27T>C, NM_001207036.2:c.27T>C, NM_001207036.1:c.27T>C, NM_001207038.2:c.27T>C, NM_001207038.1:c.27T>C, XM_011514659.2:c.-22T>C, XM_011514659.1:c.-22T>C

Select item 144488287117.

rs1444882871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:36368969 (GRCh38)
6:36336746 (GRCh37)
Canonical SPDI:: NC_000006.12:36368968:A:G,NC_000006.12:36368968:A:T
Gene:: ETV7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (SGDP_PRJ)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36368969A>G, NC_000006.12:g.36368969A>T, NC_000006.11:g.36336746A>G, NC_000006.11:g.36336746A>T, NG_029211.1:g.23832T>C, NG_029211.1:g.23832T>A, NM_016135.4:c.767T>C, NM_016135.4:c.767T>A, NM_016135.3:c.767T>C, NM_016135.3:c.767T>A, NM_001207037.2:c.590T>C, NM_001207037.2:c.590T>A, NM_001207037.1:c.590T>C, NM_001207037.1:c.590T>A, NM_001207035.2:c.767T>C, NM_001207035.2:c.767T>A, NM_001207035.1:c.767T>C, NM_001207035.1:c.767T>A, NM_001207039.2:c.602T>C, NM_001207039.2:c.602T>A, NM_001207039.1:c.602T>C, NM_001207039.1:c.602T>A, NM_001207040.2:c.524T>C, NM_001207040.2:c.524T>A, NM_001207040.1:c.524T>C, NM_001207040.1:c.524T>A, NM_001207036.2:c.602T>C, NM_001207036.2:c.602T>A, NM_001207036.1:c.602T>C, NM_001207036.1:c.602T>A, NM_001207038.2:c.536T>C, NM_001207038.2:c.536T>A, NM_001207038.1:c.536T>C, NM_001207038.1:c.536T>A, NM_001207041.2:c.314T>C, NM_001207041.2:c.314T>A, NM_001207041.1:c.314T>C, NM_001207041.1:c.314T>A, XM_011514659.2:c.719T>C, XM_011514659.2:c.719T>A, XM_011514659.1:c.719T>C, XM_011514659.1:c.719T>A, NP_057219.1:p.Val256Ala, NP_057219.1:p.Val256Glu, NP_001193966.1:p.Val197Ala, NP_001193966.1:p.Val197Glu, NP_001193964.1:p.Val256Ala, NP_001193964.1:p.Val256Glu, NP_001193968.1:p.Val201Ala, NP_001193968.1:p.Val201Glu, NP_001193969.1:p.Val175Ala, NP_001193969.1:p.Val175Glu, NP_001193965.1:p.Val201Ala, NP_001193965.1:p.Val201Glu, NP_001193967.1:p.Val179Ala, NP_001193967.1:p.Val179Glu, NP_001193970.1:p.Val105Ala, NP_001193970.1:p.Val105Glu, XP_011512961.1:p.Val240Ala, XP_011512961.1:p.Val240Glu

Select item 144220947818.

rs1442209478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36385655 (GRCh38)
6:36353432 (GRCh37)
Canonical SPDI:: NC_000006.12:36385654:A:G
Gene:: ETV7 (Varview), ETV7-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36385655A>G, NC_000006.11:g.36353432A>G, NG_029211.1:g.7146T>C, NM_016135.4:c.21T>C, NM_016135.3:c.21T>C, NM_001207037.2:c.-198T>C, NM_001207037.1:c.-198T>C, NM_001207035.2:c.21T>C, NM_001207035.1:c.21T>C, NM_001207039.2:c.21T>C, NM_001207039.1:c.21T>C, NM_001207036.2:c.21T>C, NM_001207036.1:c.21T>C, NM_001207038.2:c.21T>C, NM_001207038.1:c.21T>C, XM_011514659.2:c.-28T>C, XM_011514659.1:c.-28T>C

Select item 143467192819.

rs1434671928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36366946 (GRCh38)
6:36334723 (GRCh37)
Canonical SPDI:: NC_000006.12:36366945:C:G
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36366946C>G, NC_000006.11:g.36334723C>G, NG_029211.1:g.25855G>C, NM_016135.4:c.837G>C, NM_016135.3:c.837G>C, NM_001207037.2:c.660G>C, NM_001207037.1:c.660G>C, NM_001207035.2:c.837G>C, NM_001207035.1:c.837G>C, NM_001207039.2:c.672G>C, NM_001207039.1:c.672G>C, NM_001207040.2:c.594G>C, NM_001207040.1:c.594G>C, NM_001207036.2:c.672G>C, NM_001207036.1:c.672G>C, NM_001207038.2:c.606G>C, NM_001207038.1:c.606G>C, NM_001207041.2:c.384G>C, NM_001207041.1:c.384G>C, XM_011514659.2:c.789G>C, XM_011514659.1:c.789G>C, NP_057219.1:p.Met279Ile, NP_001193966.1:p.Met220Ile, NP_001193964.1:p.Met279Ile, NP_001193968.1:p.Met224Ile, NP_001193969.1:p.Met198Ile, NP_001193965.1:p.Met224Ile, NP_001193967.1:p.Met202Ile, NP_001193970.1:p.Met128Ile, XP_011512961.1:p.Met263Ile

Select item 143220381320.

rs1432203813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36369064 (GRCh38)
6:36336841 (GRCh37)
Canonical SPDI:: NC_000006.12:36369063:G:A
Gene:: ETV7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36369064G>A, NC_000006.11:g.36336841G>A, NG_029211.1:g.23737C>T, NM_016135.4:c.672C>T, NM_016135.3:c.672C>T, NM_001207037.2:c.495C>T, NM_001207037.1:c.495C>T, NM_001207035.2:c.672C>T, NM_001207035.1:c.672C>T, NM_001207039.2:c.507C>T, NM_001207039.1:c.507C>T, NM_001207040.2:c.429C>T, NM_001207040.1:c.429C>T, NM_001207036.2:c.507C>T, NM_001207036.1:c.507C>T, NM_001207038.2:c.441C>T, NM_001207038.1:c.441C>T, NM_001207041.2:c.219C>T, NM_001207041.1:c.219C>T, XM_011514659.2:c.624C>T, XM_011514659.1:c.624C>T

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Result Filters

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Items: 1 to 20 of 295

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