SNP Links for Protein (Select 41281996) - SNP

Links from Protein

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Select item 14906153981.

rs1490615398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50104987 (GRCh38)
16:50138898 (GRCh37)
Canonical SPDI:: NC_000016.10:50104986:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000016.10:g.50104987C>T, NC_000016.9:g.50138898C>T, NM_182922.4:c.1969C>T, NM_182922.3:c.1969C>T, NM_182922.2:c.1969C>T, NM_001329729.2:c.1618C>T, NM_001329729.1:c.1618C>T, NM_001329730.2:c.1618C>T, NM_001329730.1:c.1618C>T, NR_138092.2:n.2411C>T, NR_138092.1:n.2440C>T, NR_138093.2:n.2047C>T, NR_138093.1:n.2076C>T, NM_001329731.2:c.1276C>T, NM_001329731.1:c.1276C>T, NM_017939.1:c.1711C>T, NP_891552.1:p.Leu657Phe, NP_001316658.1:p.Leu540Phe, NP_001316659.1:p.Leu540Phe, NP_001316660.1:p.Leu426Phe

Select item 14897325162.

rs1489732516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:50078750 (GRCh38)
16:50112661 (GRCh37)
Canonical SPDI:: NC_000016.10:50078749:G:A
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50078750G>A, NC_000016.9:g.50112661G>A, NM_182922.4:c.773G>A, NM_182922.3:c.773G>A, NM_182922.2:c.773G>A, NM_001329729.2:c.422G>A, NM_001329729.1:c.422G>A, NM_001329730.2:c.422G>A, NM_001329730.1:c.422G>A, NR_138092.2:n.1189G>A, NR_138092.1:n.1218G>A, NR_138093.2:n.825G>A, NR_138093.1:n.854G>A, NM_001329731.2:c.80G>A, NM_001329731.1:c.80G>A, NM_017939.1:c.515G>A, NP_891552.1:p.Trp258Ter, NP_001316658.1:p.Trp141Ter, NP_001316659.1:p.Trp141Ter, NP_001316660.1:p.Trp27Ter

Select item 14877233713.

rs1487723371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:50066160 (GRCh38)
16:50100071 (GRCh37)
Canonical SPDI:: NC_000016.10:50066159:A:G,NC_000016.10:50066159:A:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000032/7 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50066160A>G, NC_000016.10:g.50066160A>T, NC_000016.9:g.50100071A>G, NC_000016.9:g.50100071A>T, NG_074832.1:g.483A>G, NG_074832.1:g.483A>T, NM_182922.4:c.29A>G, NM_182922.4:c.29A>T, NM_182922.3:c.29A>G, NM_182922.3:c.29A>T, NM_182922.2:c.29A>G, NM_182922.2:c.29A>T, NM_001329729.2:c.-664A>G, NM_001329729.2:c.-664A>T, NM_001329729.1:c.-664A>G, NM_001329729.1:c.-664A>T, NM_001329730.2:c.-638A>G, NM_001329730.2:c.-638A>T, NM_001329730.1:c.-638A>G, NM_001329730.1:c.-638A>T, NR_138092.2:n.191A>G, NR_138092.2:n.191A>T, NR_138092.1:n.220A>G, NR_138092.1:n.220A>T, NR_138093.2:n.191A>G, NR_138093.2:n.191A>T, NR_138093.1:n.220A>G, NR_138093.1:n.220A>T, NM_001329731.2:c.-555A>G, NM_001329731.2:c.-555A>T, NM_001329731.1:c.-555A>G, NM_001329731.1:c.-555A>T, NM_017939.1:c.-57A>G, NM_017939.1:c.-57A>T, NP_891552.1:p.Lys10Arg, NP_891552.1:p.Lys10Met

Select item 14833478684.

rs1483347868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:50070287 (GRCh38)
16:50104198 (GRCh37)
Canonical SPDI:: NC_000016.10:50070286:T:C
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50070287T>C, NC_000016.9:g.50104198T>C, NM_182922.4:c.509T>C, NM_182922.3:c.509T>C, NM_182922.2:c.509T>C, NM_001329729.2:c.158T>C, NM_001329729.1:c.158T>C, NM_001329730.2:c.158T>C, NM_001329730.1:c.158T>C, NR_138092.2:n.671T>C, NR_138092.1:n.700T>C, NR_138093.2:n.671T>C, NR_138093.1:n.700T>C, NM_001329731.2:c.-75T>C, NM_001329731.1:c.-75T>C, NM_017939.1:c.251T>C, NP_891552.1:p.Ile170Thr, NP_001316658.1:p.Ile53Thr, NP_001316659.1:p.Ile53Thr

Select item 14828124925.

rs1482812492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:50102396 (GRCh38)
16:50136307 (GRCh37)
Canonical SPDI:: NC_000016.10:50102395:A:C,NC_000016.10:50102395:A:G
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.50102396A>C, NC_000016.10:g.50102396A>G, NC_000016.9:g.50136307A>C, NC_000016.9:g.50136307A>G, NM_182922.4:c.1881A>C, NM_182922.4:c.1881A>G, NM_182922.3:c.1881A>C, NM_182922.3:c.1881A>G, NM_182922.2:c.1881A>C, NM_182922.2:c.1881A>G, NM_001329729.2:c.1530A>C, NM_001329729.2:c.1530A>G, NM_001329729.1:c.1530A>C, NM_001329729.1:c.1530A>G, NM_001329730.2:c.1530A>C, NM_001329730.2:c.1530A>G, NM_001329730.1:c.1530A>C, NM_001329730.1:c.1530A>G, NR_138092.2:n.2323A>C, NR_138092.2:n.2323A>G, NR_138092.1:n.2352A>C, NR_138092.1:n.2352A>G, NR_138093.2:n.1959A>C, NR_138093.2:n.1959A>G, NR_138093.1:n.1988A>C, NR_138093.1:n.1988A>G, NM_001329731.2:c.1188A>C, NM_001329731.2:c.1188A>G, NM_001329731.1:c.1188A>C, NM_001329731.1:c.1188A>G, NM_017939.1:c.1623A>C, NM_017939.1:c.1623A>G, NP_891552.1:p.Leu627Phe, NP_001316658.1:p.Leu510Phe, NP_001316659.1:p.Leu510Phe, NP_001316660.1:p.Leu396Phe

Select item 14827098166.

rs1482709816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50094747 (GRCh38)
16:50128658 (GRCh37)
Canonical SPDI:: NC_000016.10:50094746:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.50094747C>T, NC_000016.9:g.50128658C>T, NM_182922.4:c.1553C>T, NM_182922.3:c.1553C>T, NM_182922.2:c.1553C>T, NM_001329729.2:c.1202C>T, NM_001329729.1:c.1202C>T, NM_001329730.2:c.1202C>T, NM_001329730.1:c.1202C>T, NR_138092.2:n.1995C>T, NR_138092.1:n.2024C>T, NR_138093.2:n.1631C>T, NR_138093.1:n.1660C>T, NM_001329731.2:c.860C>T, NM_001329731.1:c.860C>T, NM_017939.1:c.1295C>T, NP_891552.1:p.Ala518Val, NP_001316658.1:p.Ala401Val, NP_001316659.1:p.Ala401Val, NP_001316660.1:p.Ala287Val

Select item 14802224167.

rs1480222416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:50084291 (GRCh38)
16:50118202 (GRCh37)
Canonical SPDI:: NC_000016.10:50084290:G:A,NC_000016.10:50084290:G:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.50084291G>A, NC_000016.10:g.50084291G>T, NC_000016.9:g.50118202G>A, NC_000016.9:g.50118202G>T, NM_182922.4:c.1290G>A, NM_182922.4:c.1290G>T, NM_182922.3:c.1290G>A, NM_182922.3:c.1290G>T, NM_182922.2:c.1290G>A, NM_182922.2:c.1290G>T, NM_001329729.2:c.939G>A, NM_001329729.2:c.939G>T, NM_001329729.1:c.939G>A, NM_001329729.1:c.939G>T, NM_001329730.2:c.939G>A, NM_001329730.2:c.939G>T, NM_001329730.1:c.939G>A, NM_001329730.1:c.939G>T, NR_138092.2:n.1732G>A, NR_138092.2:n.1732G>T, NR_138092.1:n.1761G>A, NR_138092.1:n.1761G>T, NR_138093.2:n.1368G>A, NR_138093.2:n.1368G>T, NR_138093.1:n.1397G>A, NR_138093.1:n.1397G>T, NM_001329731.2:c.597G>A, NM_001329731.2:c.597G>T, NM_001329731.1:c.597G>A, NM_001329731.1:c.597G>T, NM_017939.1:c.1032G>A, NM_017939.1:c.1032G>T, NP_891552.1:p.Lys430Asn, NP_001316658.1:p.Lys313Asn, NP_001316659.1:p.Lys313Asn, NP_001316660.1:p.Lys199Asn

Select item 14798199198.

rs1479819919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50066501 (GRCh38)
16:50100412 (GRCh37)
Canonical SPDI:: NC_000016.10:50066500:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_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_000016.10:g.50066501C>T, NC_000016.9:g.50100412C>T, NM_182922.4:c.273C>T, NM_182922.3:c.273C>T, NM_182922.2:c.273C>T, NM_001329729.2:c.-420C>T, NM_001329729.1:c.-420C>T, NM_001329730.2:c.-394C>T, NM_001329730.1:c.-394C>T, NR_138092.2:n.435C>T, NR_138092.1:n.464C>T, NR_138093.2:n.435C>T, NR_138093.1:n.464C>T, NM_001329731.2:c.-311C>T, NM_001329731.1:c.-311C>T

Select item 14793170969.

rs1479317096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50084233 (GRCh38)
16:50118144 (GRCh37)
Canonical SPDI:: NC_000016.10:50084232:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50084233C>T, NC_000016.9:g.50118144C>T, NM_182922.4:c.1232C>T, NM_182922.3:c.1232C>T, NM_182922.2:c.1232C>T, NM_001329729.2:c.881C>T, NM_001329729.1:c.881C>T, NM_001329730.2:c.881C>T, NM_001329730.1:c.881C>T, NR_138092.2:n.1674C>T, NR_138092.1:n.1703C>T, NR_138093.2:n.1310C>T, NR_138093.1:n.1339C>T, NM_001329731.2:c.539C>T, NM_001329731.1:c.539C>T, NM_017939.1:c.974C>T, NP_891552.1:p.Pro411Leu, NP_001316658.1:p.Pro294Leu, NP_001316659.1:p.Pro294Leu, NP_001316660.1:p.Pro180Leu

Select item 147759829210.

rs1477598292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:50078773 (GRCh38)
16:50112684 (GRCh37)
Canonical SPDI:: NC_000016.10:50078772:T:C
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.50078773T>C, NC_000016.9:g.50112684T>C, NM_182922.4:c.796T>C, NM_182922.3:c.796T>C, NM_182922.2:c.796T>C, NM_001329729.2:c.445T>C, NM_001329729.1:c.445T>C, NM_001329730.2:c.445T>C, NM_001329730.1:c.445T>C, NR_138092.2:n.1212T>C, NR_138092.1:n.1241T>C, NR_138093.2:n.848T>C, NR_138093.1:n.877T>C, NM_001329731.2:c.103T>C, NM_001329731.1:c.103T>C, NM_017939.1:c.538T>C, NP_891552.1:p.Cys266Arg, NP_001316658.1:p.Cys149Arg, NP_001316659.1:p.Cys149Arg, NP_001316660.1:p.Cys35Arg

Select item 147689197111.

rs1476891971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:50066408 (GRCh38)
16:50100319 (GRCh37)
Canonical SPDI:: NC_000016.10:50066407:A:G
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.50066408A>G, NC_000016.9:g.50100319A>G, NM_182922.4:c.180A>G, NM_182922.3:c.180A>G, NM_182922.2:c.180A>G, NM_001329729.2:c.-513A>G, NM_001329729.1:c.-513A>G, NM_001329730.2:c.-487A>G, NM_001329730.1:c.-487A>G, NR_138092.2:n.342A>G, NR_138092.1:n.371A>G, NR_138093.2:n.342A>G, NR_138093.1:n.371A>G, NM_001329731.2:c.-404A>G, NM_001329731.1:c.-404A>G

Select item 147662528312.

rs1476625283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50086266 (GRCh38)
16:50120177 (GRCh37)
Canonical SPDI:: NC_000016.10:50086265:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50086266C>T, NC_000016.9:g.50120177C>T, NM_182922.4:c.1425C>T, NM_182922.3:c.1425C>T, NM_182922.2:c.1425C>T, NM_001329729.2:c.1074C>T, NM_001329729.1:c.1074C>T, NM_001329730.2:c.1074C>T, NM_001329730.1:c.1074C>T, NR_138092.2:n.1867C>T, NR_138092.1:n.1896C>T, NR_138093.2:n.1503C>T, NR_138093.1:n.1532C>T, NM_001329731.2:c.732C>T, NM_001329731.1:c.732C>T, NM_017939.1:c.1167C>T

Select item 147379600413.

rs1473796004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:50066141 (GRCh38)
16:50100052 (GRCh37)
Canonical SPDI:: NC_000016.10:50066140:A:G
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.50066141A>G, NC_000016.9:g.50100052A>G, NG_074832.1:g.464A>G, NM_182922.4:c.10A>G, NM_182922.3:c.10A>G, NM_182922.2:c.10A>G, NM_001329729.2:c.-683A>G, NM_001329729.1:c.-683A>G, NM_001329730.2:c.-657A>G, NM_001329730.1:c.-657A>G, NR_138092.2:n.172A>G, NR_138092.1:n.201A>G, NR_138093.2:n.172A>G, NR_138093.1:n.201A>G, NM_001329731.2:c.-574A>G, NM_001329731.1:c.-574A>G, NM_017939.1:c.-76A>G, NP_891552.1:p.Ser4Gly

Select item 147043995414.

rs1470439954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:50070232 (GRCh38)
16:50104143 (GRCh37)
Canonical SPDI:: NC_000016.10:50070231:A:C
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.50070232A>C, NC_000016.9:g.50104143A>C, NM_182922.4:c.454A>C, NM_182922.3:c.454A>C, NM_182922.2:c.454A>C, NM_001329729.2:c.103A>C, NM_001329729.1:c.103A>C, NM_001329730.2:c.103A>C, NM_001329730.1:c.103A>C, NR_138092.2:n.616A>C, NR_138092.1:n.645A>C, NR_138093.2:n.616A>C, NR_138093.1:n.645A>C, NM_001329731.2:c.-130A>C, NM_001329731.1:c.-130A>C, NM_017939.1:c.196A>C, NP_891552.1:p.Asn152His, NP_001316658.1:p.Asn35His, NP_001316659.1:p.Asn35His

Select item 146710925615.

rs1467109256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:50066473 (GRCh38)
16:50100384 (GRCh37)
Canonical SPDI:: NC_000016.10:50066472:G:A
Gene:: HEATR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000076/20 (TOPMED)
HGVS:: NC_000016.10:g.50066473G>A, NC_000016.9:g.50100384G>A, NM_182922.4:c.245G>A, NM_182922.3:c.245G>A, NM_182922.2:c.245G>A, NM_001329729.2:c.-448G>A, NM_001329729.1:c.-448G>A, NM_001329730.2:c.-422G>A, NM_001329730.1:c.-422G>A, NR_138092.2:n.407G>A, NR_138092.1:n.436G>A, NR_138093.2:n.407G>A, NR_138093.1:n.436G>A, NM_001329731.2:c.-339G>A, NM_001329731.1:c.-339G>A, NP_891552.1:p.Arg82His

Select item 146442321516.

rs1464423215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:50094787 (GRCh38)
16:50128698 (GRCh37)
Canonical SPDI:: NC_000016.10:50094786:T:C
Gene:: HEATR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.50094787T>C, NC_000016.9:g.50128698T>C, NM_182922.4:c.1593T>C, NM_182922.3:c.1593T>C, NM_182922.2:c.1593T>C, NM_001329729.2:c.1242T>C, NM_001329729.1:c.1242T>C, NM_001329730.2:c.1242T>C, NM_001329730.1:c.1242T>C, NR_138092.2:n.2035T>C, NR_138092.1:n.2064T>C, NR_138093.2:n.1671T>C, NR_138093.1:n.1700T>C, NM_001329731.2:c.900T>C, NM_001329731.1:c.900T>C, NM_017939.1:c.1335T>C

Select item 146175623917.

rs1461756239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50066430 (GRCh38)
16:50100341 (GRCh37)
Canonical SPDI:: NC_000016.10:50066429:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,stop_gained,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_000016.10:g.50066430C>T, NC_000016.9:g.50100341C>T, NM_182922.4:c.202C>T, NM_182922.3:c.202C>T, NM_182922.2:c.202C>T, NM_001329729.2:c.-491C>T, NM_001329729.1:c.-491C>T, NM_001329730.2:c.-465C>T, NM_001329730.1:c.-465C>T, NR_138092.2:n.364C>T, NR_138092.1:n.393C>T, NR_138093.2:n.364C>T, NR_138093.1:n.393C>T, NM_001329731.2:c.-382C>T, NM_001329731.1:c.-382C>T, NP_891552.1:p.Gln68Ter

Select item 146158606118.

rs1461586061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:50078938 (GRCh38)
16:50112849 (GRCh37)
Canonical SPDI:: NC_000016.10:50078937:T:G
Gene:: HEATR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.50078938T>G, NC_000016.9:g.50112849T>G, NM_182922.4:c.961T>G, NM_182922.3:c.961T>G, NM_182922.2:c.961T>G, NM_001329729.2:c.610T>G, NM_001329729.1:c.610T>G, NM_001329730.2:c.610T>G, NM_001329730.1:c.610T>G, NR_138092.2:n.1377T>G, NR_138092.1:n.1406T>G, NR_138093.2:n.1013T>G, NR_138093.1:n.1042T>G, NM_001329731.2:c.268T>G, NM_001329731.1:c.268T>G, NM_017939.1:c.703T>G, NP_891552.1:p.Leu321Val, NP_001316658.1:p.Leu204Val, NP_001316659.1:p.Leu204Val, NP_001316660.1:p.Leu90Val

Select item 146121313619.

rs1461213136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:50066467 (GRCh38)
16:50100378 (GRCh37)
Canonical SPDI:: NC_000016.10:50066466:C:T
Gene:: HEATR3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.50066467C>T, NC_000016.9:g.50100378C>T, NM_182922.4:c.239C>T, NM_182922.3:c.239C>T, NM_182922.2:c.239C>T, NM_001329729.2:c.-454C>T, NM_001329729.1:c.-454C>T, NM_001329730.2:c.-428C>T, NM_001329730.1:c.-428C>T, NR_138092.2:n.401C>T, NR_138092.1:n.430C>T, NR_138093.2:n.401C>T, NR_138093.1:n.430C>T, NM_001329731.2:c.-345C>T, NM_001329731.1:c.-345C>T, NP_891552.1:p.Ala80Val

Select item 146044994720.

rs1460449947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:50070208 (GRCh38)
16:50104119 (GRCh37)
Canonical SPDI:: NC_000016.10:50070207:T:G
Gene:: HEATR3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.50070208T>G, NC_000016.9:g.50104119T>G, NM_182922.4:c.430T>G, NM_182922.3:c.430T>G, NM_182922.2:c.430T>G, NM_001329729.2:c.79T>G, NM_001329729.1:c.79T>G, NM_001329730.2:c.79T>G, NM_001329730.1:c.79T>G, NR_138092.2:n.592T>G, NR_138092.1:n.621T>G, NR_138093.2:n.592T>G, NR_138093.1:n.621T>G, NM_001329731.2:c.-154T>G, NM_001329731.1:c.-154T>G, NM_017939.1:c.172T>G, NP_891552.1:p.Ser144Ala, NP_001316658.1:p.Ser27Ala, NP_001316659.1:p.Ser27Ala

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