SNP Links for Protein (Select 574584820) - SNP

Select item 14830462441.

rs1483046244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495215 (GRCh38)
19:6495226 (GRCh37)
Canonical SPDI:: NC_000019.10:6495214:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.6495215G>A, NC_000019.9:g.6495226G>A, NG_033896.1:g.12634C>T, NM_006087.4:c.1284C>T, NM_006087.3:c.1284C>T, NM_006087.2:c.1284C>T, NM_001289123.2:c.1437C>T, NM_001289123.1:c.1437C>T, NM_001289127.2:c.1419C>T, NM_001289127.1:c.1419C>T, NM_001289129.2:c.1284C>T, NM_001289129.1:c.1284C>T, NM_001289130.2:c.1068C>T, NM_001289130.1:c.1068C>T, NM_001289131.2:c.1068C>T, NM_001289131.1:c.1068C>T

Select item 14824215032.

rs1482421503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495272 (GRCh38)
19:6495283 (GRCh37)
Canonical SPDI:: NC_000019.10:6495271:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495272G>A, NC_000019.9:g.6495283G>A, NG_033896.1:g.12577C>T, NM_006087.4:c.1227C>T, NM_006087.3:c.1227C>T, NM_006087.2:c.1227C>T, NM_001289123.2:c.1380C>T, NM_001289123.1:c.1380C>T, NM_001289127.2:c.1362C>T, NM_001289127.1:c.1362C>T, NM_001289129.2:c.1227C>T, NM_001289129.1:c.1227C>T, NM_001289130.2:c.1011C>T, NM_001289130.1:c.1011C>T, NM_001289131.2:c.1011C>T, NM_001289131.1:c.1011C>T

Select item 14823287133.

rs1482328713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:6495861 (GRCh38)
19:6495872 (GRCh37)
Canonical SPDI:: NC_000019.10:6495860:C:A,NC_000019.10:6495860:C:T
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495861C>A, NC_000019.10:g.6495861C>T, NC_000019.9:g.6495872C>A, NC_000019.9:g.6495872C>T, NG_033896.1:g.11988G>T, NG_033896.1:g.11988G>A, NM_006087.4:c.638G>T, NM_006087.4:c.638G>A, NM_006087.3:c.638G>T, NM_006087.3:c.638G>A, NM_006087.2:c.638G>T, NM_006087.2:c.638G>A, NM_001289123.2:c.791G>T, NM_001289123.2:c.791G>A, NM_001289123.1:c.791G>T, NM_001289123.1:c.791G>A, NM_001289127.2:c.773G>T, NM_001289127.2:c.773G>A, NM_001289127.1:c.773G>T, NM_001289127.1:c.773G>A, NM_001289129.2:c.638G>T, NM_001289129.2:c.638G>A, NM_001289129.1:c.638G>T, NM_001289129.1:c.638G>A, NM_001289130.2:c.422G>T, NM_001289130.2:c.422G>A, NM_001289130.1:c.422G>T, NM_001289130.1:c.422G>A, NM_001289131.2:c.422G>T, NM_001289131.2:c.422G>A, NM_001289131.1:c.422G>T, NM_001289131.1:c.422G>A, NP_006078.2:p.Arg213Leu, NP_006078.2:p.Arg213His, NP_001276052.1:p.Arg264Leu, NP_001276052.1:p.Arg264His, NP_001276056.1:p.Arg258Leu, NP_001276056.1:p.Arg258His, NP_001276058.1:p.Arg213Leu, NP_001276058.1:p.Arg213His, NP_001276059.1:p.Arg141Leu, NP_001276059.1:p.Arg141His, NP_001276060.1:p.Arg141Leu, NP_001276060.1:p.Arg141His

Select item 14789442084.

rs1478944208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:6496187 (GRCh38)
19:6496198 (GRCh37)
Canonical SPDI:: NC_000019.10:6496186:C:G
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6496187C>G, NC_000019.9:g.6496198C>G, NG_033896.1:g.11662G>C, NM_006087.4:c.312G>C, NM_006087.3:c.312G>C, NM_006087.2:c.312G>C, NM_001289123.2:c.465G>C, NM_001289123.1:c.465G>C, NM_001289127.2:c.447G>C, NM_001289127.1:c.447G>C, NM_001289129.2:c.312G>C, NM_001289129.1:c.312G>C, NM_001289130.2:c.96G>C, NM_001289130.1:c.96G>C, NM_001289131.2:c.96G>C, NM_001289131.1:c.96G>C

Select item 14777822805.

rs1477782280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:6495790 (GRCh38)
19:6495801 (GRCh37)
Canonical SPDI:: NC_000019.10:6495789:T:G
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0055/10 (Korea1K)
HGVS:: NC_000019.10:g.6495790T>G, NC_000019.9:g.6495801T>G, NG_033896.1:g.12059A>C, NM_006087.4:c.709A>C, NM_006087.3:c.709A>C, NM_006087.2:c.709A>C, NM_001289123.2:c.862A>C, NM_001289123.1:c.862A>C, NM_001289127.2:c.844A>C, NM_001289127.1:c.844A>C, NM_001289129.2:c.709A>C, NM_001289129.1:c.709A>C, NM_001289130.2:c.493A>C, NM_001289130.1:c.493A>C, NM_001289131.2:c.493A>C, NM_001289131.1:c.493A>C, NP_006078.2:p.Thr237Pro, NP_001276052.1:p.Thr288Pro, NP_001276056.1:p.Thr282Pro, NP_001276058.1:p.Thr237Pro, NP_001276059.1:p.Thr165Pro, NP_001276060.1:p.Thr165Pro

Select item 14721272606.

rs1472127260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6496137 (GRCh38)
19:6496148 (GRCh37)
Canonical SPDI:: NC_000019.10:6496136:C:T
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6496137C>T, NC_000019.9:g.6496148C>T, NG_033896.1:g.11712G>A, NM_006087.4:c.362G>A, NM_006087.3:c.362G>A, NM_006087.2:c.362G>A, NM_001289123.2:c.515G>A, NM_001289123.1:c.515G>A, NM_001289127.2:c.497G>A, NM_001289127.1:c.497G>A, NM_001289129.2:c.362G>A, NM_001289129.1:c.362G>A, NM_001289130.2:c.146G>A, NM_001289130.1:c.146G>A, NM_001289131.2:c.146G>A, NM_001289131.1:c.146G>A, NP_006078.2:p.Arg121Gln, NP_001276052.1:p.Arg172Gln, NP_001276056.1:p.Arg166Gln, NP_001276058.1:p.Arg121Gln, NP_001276059.1:p.Arg49Gln, NP_001276060.1:p.Arg49Gln

Select item 14632256177.

rs1463225617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495342 (GRCh38)
19:6495353 (GRCh37)
Canonical SPDI:: NC_000019.10:6495341:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495342G>A, NC_000019.9:g.6495353G>A, NG_033896.1:g.12507C>T, NM_006087.4:c.1157C>T, NM_006087.3:c.1157C>T, NM_006087.2:c.1157C>T, NM_001289123.2:c.1310C>T, NM_001289123.1:c.1310C>T, NM_001289127.2:c.1292C>T, NM_001289127.1:c.1292C>T, NM_001289129.2:c.1157C>T, NM_001289129.1:c.1157C>T, NM_001289130.2:c.941C>T, NM_001289130.1:c.941C>T, NM_001289131.2:c.941C>T, NM_001289131.1:c.941C>T, NP_006078.2:p.Thr386Met, NP_001276052.1:p.Thr437Met, NP_001276056.1:p.Thr431Met, NP_001276058.1:p.Thr386Met, NP_001276059.1:p.Thr314Met, NP_001276060.1:p.Thr314Met

Select item 14565924898.

rs1456592489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495356 (GRCh38)
19:6495367 (GRCh37)
Canonical SPDI:: NC_000019.10:6495355:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6495356G>A, NC_000019.9:g.6495367G>A, NG_033896.1:g.12493C>T, NM_006087.4:c.1143C>T, NM_006087.3:c.1143C>T, NM_006087.2:c.1143C>T, NM_001289123.2:c.1296C>T, NM_001289123.1:c.1296C>T, NM_001289127.2:c.1278C>T, NM_001289127.1:c.1278C>T, NM_001289129.2:c.1143C>T, NM_001289129.1:c.1143C>T, NM_001289130.2:c.927C>T, NM_001289130.1:c.927C>T, NM_001289131.2:c.927C>T, NM_001289131.1:c.927C>T

Select item 14513151339.

rs1451315133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:6496116 (GRCh38)
19:6496127 (GRCh37)
Canonical SPDI:: NC_000019.10:6496115:T:C
Gene:: TUBB4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6496116T>C, NC_000019.9:g.6496127T>C, NG_033896.1:g.11733A>G, NM_006087.4:c.383A>G, NM_006087.3:c.383A>G, NM_006087.2:c.383A>G, NM_001289123.2:c.536A>G, NM_001289123.1:c.536A>G, NM_001289127.2:c.518A>G, NM_001289127.1:c.518A>G, NM_001289129.2:c.383A>G, NM_001289129.1:c.383A>G, NM_001289130.2:c.167A>G, NM_001289130.1:c.167A>G, NM_001289131.2:c.167A>G, NM_001289131.1:c.167A>G, NP_006078.2:p.Asp128Gly, NP_001276052.1:p.Asp179Gly, NP_001276056.1:p.Asp173Gly, NP_001276058.1:p.Asp128Gly, NP_001276059.1:p.Asp56Gly, NP_001276060.1:p.Asp56Gly

Select item 144152649110.

rs1441526491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:6495638 (GRCh38)
19:6495649 (GRCh37)
Canonical SPDI:: NC_000019.10:6495637:G:A,NC_000019.10:6495637:G:C
Gene:: TUBB4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.6495638G>A, NC_000019.10:g.6495638G>C, NC_000019.9:g.6495649G>A, NC_000019.9:g.6495649G>C, NG_033896.1:g.12211C>T, NG_033896.1:g.12211C>G, NM_006087.4:c.861C>T, NM_006087.4:c.861C>G, NM_006087.3:c.861C>T, NM_006087.3:c.861C>G, NM_006087.2:c.861C>T, NM_006087.2:c.861C>G, NM_001289123.2:c.1014C>T, NM_001289123.2:c.1014C>G, NM_001289123.1:c.1014C>T, NM_001289123.1:c.1014C>G, NM_001289127.2:c.996C>T, NM_001289127.2:c.996C>G, NM_001289127.1:c.996C>T, NM_001289127.1:c.996C>G, NM_001289129.2:c.861C>T, NM_001289129.2:c.861C>G, NM_001289129.1:c.861C>T, NM_001289129.1:c.861C>G, NM_001289130.2:c.645C>T, NM_001289130.2:c.645C>G, NM_001289130.1:c.645C>T, NM_001289130.1:c.645C>G, NM_001289131.2:c.645C>T, NM_001289131.2:c.645C>G, NM_001289131.1:c.645C>T, NM_001289131.1:c.645C>G

Select item 144039788811.

rs1440397888 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCTCCTCC>- [Show Flanks]
Chromosome:: 19:6495183 (GRCh38)
19:6495194 (GRCh37)
Canonical SPDI:: NC_000019.10:6495174:CCTCCTCCGCCTCCTCC:CCTCCTCC
Gene:: TUBB4A (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCTCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.6495183_6495191del, NC_000019.9:g.6495194_6495202del, NG_033896.1:g.12666_12674del, NM_006087.4:c.1316_1324del, NM_006087.3:c.1316_1324del, NM_006087.2:c.1316_1324del, NM_001289123.2:c.1469_1477del, NM_001289123.1:c.1469_1477del, NM_001289127.2:c.1451_1459del, NM_001289127.1:c.1451_1459del, NM_001289129.2:c.1316_1324del, NM_001289129.1:c.1316_1324del, NM_001289130.2:c.1100_1108del, NM_001289130.1:c.1100_1108del, NM_001289131.2:c.1100_1108del, NM_001289131.1:c.1100_1108del, NP_006078.2:p.Ala439_Glu441del, NP_001276052.1:p.Ala490_Glu492del, NP_001276056.1:p.Ala484_Glu486del, NP_001276058.1:p.Ala439_Glu441del, NP_001276059.1:p.Ala367_Glu369del, NP_001276060.1:p.Ala367_Glu369del

Select item 143789303112.

rs1437893031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495755 (GRCh38)
19:6495766 (GRCh37)
Canonical SPDI:: NC_000019.10:6495754:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.6495755G>A, NC_000019.9:g.6495766G>A, NG_033896.1:g.12094C>T, NM_006087.4:c.744C>T, NM_006087.3:c.744C>T, NM_006087.2:c.744C>T, NM_001289123.2:c.897C>T, NM_001289123.1:c.897C>T, NM_001289127.2:c.879C>T, NM_001289127.1:c.879C>T, NM_001289129.2:c.744C>T, NM_001289129.1:c.744C>T, NM_001289130.2:c.528C>T, NM_001289130.1:c.528C>T, NM_001289131.2:c.528C>T, NM_001289131.1:c.528C>T

Select item 143329436213.

rs1433294362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6495504 (GRCh38)
19:6495515 (GRCh37)
Canonical SPDI:: NC_000019.10:6495503:C:T
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.6495504C>T, NC_000019.9:g.6495515C>T, NG_033896.1:g.12345G>A, NM_006087.4:c.995G>A, NM_006087.3:c.995G>A, NM_006087.2:c.995G>A, NM_001289123.2:c.1148G>A, NM_001289123.1:c.1148G>A, NM_001289127.2:c.1130G>A, NM_001289127.1:c.1130G>A, NM_001289129.2:c.995G>A, NM_001289129.1:c.995G>A, NM_001289130.2:c.779G>A, NM_001289130.1:c.779G>A, NM_001289131.2:c.779G>A, NM_001289131.1:c.779G>A, NP_006078.2:p.Ser332Asn, NP_001276052.1:p.Ser383Asn, NP_001276056.1:p.Ser377Asn, NP_001276058.1:p.Ser332Asn, NP_001276059.1:p.Ser260Asn, NP_001276060.1:p.Ser260Asn

Select item 142985712214.

rs1429857122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:6495401 (GRCh38)
19:6495412 (GRCh37)
Canonical SPDI:: NC_000019.10:6495400:G:A,NC_000019.10:6495400:G:T
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6495401G>A, NC_000019.10:g.6495401G>T, NC_000019.9:g.6495412G>A, NC_000019.9:g.6495412G>T, NG_033896.1:g.12448C>T, NG_033896.1:g.12448C>A, NM_006087.4:c.1098C>T, NM_006087.4:c.1098C>A, NM_006087.3:c.1098C>T, NM_006087.3:c.1098C>A, NM_006087.2:c.1098C>T, NM_006087.2:c.1098C>A, NM_001289123.2:c.1251C>T, NM_001289123.2:c.1251C>A, NM_001289123.1:c.1251C>T, NM_001289123.1:c.1251C>A, NM_001289127.2:c.1233C>T, NM_001289127.2:c.1233C>A, NM_001289127.1:c.1233C>T, NM_001289127.1:c.1233C>A, NM_001289129.2:c.1098C>T, NM_001289129.2:c.1098C>A, NM_001289129.1:c.1098C>T, NM_001289129.1:c.1098C>A, NM_001289130.2:c.882C>T, NM_001289130.2:c.882C>A, NM_001289130.1:c.882C>T, NM_001289130.1:c.882C>A, NM_001289131.2:c.882C>T, NM_001289131.2:c.882C>A, NM_001289131.1:c.882C>T, NM_001289131.1:c.882C>A

Select item 142281599015.

rs1422815990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495398 (GRCh38)
19:6495409 (GRCh37)
Canonical SPDI:: NC_000019.10:6495397:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495398G>A, NC_000019.9:g.6495409G>A, NG_033896.1:g.12451C>T, NM_006087.4:c.1101C>T, NM_006087.3:c.1101C>T, NM_006087.2:c.1101C>T, NM_001289123.2:c.1254C>T, NM_001289123.1:c.1254C>T, NM_001289127.2:c.1236C>T, NM_001289127.1:c.1236C>T, NM_001289129.2:c.1101C>T, NM_001289129.1:c.1101C>T, NM_001289130.2:c.885C>T, NM_001289130.1:c.885C>T, NM_001289131.2:c.885C>T, NM_001289131.1:c.885C>T

Select item 142191886316.

rs1421918863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:6496127 (GRCh38)
19:6496138 (GRCh37)
Canonical SPDI:: NC_000019.10:6496126:G:A,NC_000019.10:6496126:G:C
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.6496127G>A, NC_000019.10:g.6496127G>C, NC_000019.9:g.6496138G>A, NC_000019.9:g.6496138G>C, NG_033896.1:g.11722C>T, NG_033896.1:g.11722C>G, NM_006087.4:c.372C>T, NM_006087.4:c.372C>G, NM_006087.3:c.372C>T, NM_006087.3:c.372C>G, NM_006087.2:c.372C>T, NM_006087.2:c.372C>G, NM_001289123.2:c.525C>T, NM_001289123.2:c.525C>G, NM_001289123.1:c.525C>T, NM_001289123.1:c.525C>G, NM_001289127.2:c.507C>T, NM_001289127.2:c.507C>G, NM_001289127.1:c.507C>T, NM_001289127.1:c.507C>G, NM_001289129.2:c.372C>T, NM_001289129.2:c.372C>G, NM_001289129.1:c.372C>T, NM_001289129.1:c.372C>G, NM_001289130.2:c.156C>T, NM_001289130.2:c.156C>G, NM_001289130.1:c.156C>T, NM_001289130.1:c.156C>G, NM_001289131.2:c.156C>T, NM_001289131.2:c.156C>G, NM_001289131.1:c.156C>T, NM_001289131.1:c.156C>G

Select item 141195021717.

rs1411950217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6495651 (GRCh38)
19:6495662 (GRCh37)
Canonical SPDI:: NC_000019.10:6495650:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495651G>A, NC_000019.9:g.6495662G>A, NG_033896.1:g.12198C>T, NM_006087.4:c.848C>T, NM_006087.3:c.848C>T, NM_006087.2:c.848C>T, NM_001289123.2:c.1001C>T, NM_001289123.1:c.1001C>T, NM_001289127.2:c.983C>T, NM_001289127.1:c.983C>T, NM_001289129.2:c.848C>T, NM_001289129.1:c.848C>T, NM_001289130.2:c.632C>T, NM_001289130.1:c.632C>T, NM_001289131.2:c.632C>T, NM_001289131.1:c.632C>T, NP_006078.2:p.Ala283Val, NP_001276052.1:p.Ala334Val, NP_001276056.1:p.Ala328Val, NP_001276058.1:p.Ala283Val, NP_001276059.1:p.Ala211Val, NP_001276060.1:p.Ala211Val

Select item 141148641418.

rs1411486414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:6495331 (GRCh38)
19:6495342 (GRCh37)
Canonical SPDI:: NC_000019.10:6495330:G:A,NC_000019.10:6495330:G:T
Gene:: TUBB4A (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6495331G>A, NC_000019.10:g.6495331G>T, NC_000019.9:g.6495342G>A, NC_000019.9:g.6495342G>T, NG_033896.1:g.12518C>T, NG_033896.1:g.12518C>A, NM_006087.4:c.1168C>T, NM_006087.4:c.1168C>A, NM_006087.3:c.1168C>T, NM_006087.3:c.1168C>A, NM_006087.2:c.1168C>T, NM_006087.2:c.1168C>A, NM_001289123.2:c.1321C>T, NM_001289123.2:c.1321C>A, NM_001289123.1:c.1321C>T, NM_001289123.1:c.1321C>A, NM_001289127.2:c.1303C>T, NM_001289127.2:c.1303C>A, NM_001289127.1:c.1303C>T, NM_001289127.1:c.1303C>A, NM_001289129.2:c.1168C>T, NM_001289129.2:c.1168C>A, NM_001289129.1:c.1168C>T, NM_001289129.1:c.1168C>A, NM_001289130.2:c.952C>T, NM_001289130.2:c.952C>A, NM_001289130.1:c.952C>T, NM_001289130.1:c.952C>A, NM_001289131.2:c.952C>T, NM_001289131.2:c.952C>A, NM_001289131.1:c.952C>T, NM_001289131.1:c.952C>A, NP_006078.2:p.Arg390Trp, NP_001276052.1:p.Arg441Trp, NP_001276056.1:p.Arg435Trp, NP_001276058.1:p.Arg390Trp, NP_001276059.1:p.Arg318Trp, NP_001276060.1:p.Arg318Trp

Select item 141037014919.

rs1410370149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6501304 (GRCh38)
19:6501315 (GRCh37)
Canonical SPDI:: NC_000019.10:6501303:G:A
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6501304G>A, NC_000019.9:g.6501315G>A, NG_033896.1:g.6545C>T, NM_006087.4:c.260C>T, NM_006087.3:c.260C>T, NM_006087.2:c.260C>T, NM_001289123.2:c.413C>T, NM_001289123.1:c.413C>T, NM_001289127.2:c.395C>T, NM_001289127.1:c.395C>T, NM_001289129.2:c.260C>T, NM_001289129.1:c.260C>T, NM_001289130.2:c.44C>T, NM_001289130.1:c.44C>T, NM_001289131.2:c.44C>T, NM_001289131.1:c.44C>T, NP_006078.2:p.Pro87Leu, NP_001276052.1:p.Pro138Leu, NP_001276056.1:p.Pro132Leu, NP_001276058.1:p.Pro87Leu, NP_001276059.1:p.Pro15Leu, NP_001276060.1:p.Pro15Leu

Select item 140638882720.

rs1406388827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6495483 (GRCh38)
19:6495494 (GRCh37)
Canonical SPDI:: NC_000019.10:6495482:C:T
Gene:: TUBB4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6495483C>T, NC_000019.9:g.6495494C>T, NG_033896.1:g.12366G>A, NM_006087.4:c.1016G>A, NM_006087.3:c.1016G>A, NM_006087.2:c.1016G>A, NM_001289123.2:c.1169G>A, NM_001289123.1:c.1169G>A, NM_001289127.2:c.1151G>A, NM_001289127.1:c.1151G>A, NM_001289129.2:c.1016G>A, NM_001289129.1:c.1016G>A, NM_001289130.2:c.800G>A, NM_001289130.1:c.800G>A, NM_001289131.2:c.800G>A, NM_001289131.1:c.800G>A, NP_006078.2:p.Ser339Asn, NP_001276052.1:p.Ser390Asn, NP_001276056.1:p.Ser384Asn, NP_001276058.1:p.Ser339Asn, NP_001276059.1:p.Ser267Asn, NP_001276060.1:p.Ser267Asn

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