Linked Data
ClinVar Variation Id:
773850
ClinVar RCV Id:
RCV000953686
dbSNP Id:
rs151223777
ExAC:
2:202025486 G / A
gnomAD v2:
2-202025486-G-A
gnomAD v3:
2-201160763-G-A
gnomAD v4:
2-201160763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201160763G>A , CM000664.2:g.201160763G>A | GRCh38 |
| NC_000002.11:g.202025486G>A , CM000664.1:g.202025486G>A | GRCh37 |
| NC_000002.10:g.201733731G>A | NCBI36 |
| NG_029005.1:g.49610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309955.8:c.1125G>A MANE Select | ENSP00000312455.2:p.Val375= | |
| ENST00000309955.7:c.1125G>A | ENSP00000312455.2:p.Val375= | |
| ENST00000340870.6:c.783G>A | ENSP00000339326.6:p.Val261= | |
| ENST00000341582.10:c.1020G>A | ENSP00000345807.6:p.Val340= | |
| ENST00000423241.6:c.1125G>A | ENSP00000399420.2:p.Val375= | |
| ENST00000443227.5:c.837G>A | ENSP00000413270.1:p.Val279= | |
| ENST00000457277.5:c.1125G>A | ENSP00000411535.1:p.Val375= | |
| ENST00000474842.1:n.773G>A | ||
| ENST00000479953.6:c.837G>A | ENSP00000471805.1:p.Val279= | |
| NM_001127183.2:c.1125G>A | NP_001120655.1:p.Val375= | |
| NM_001202515.1:c.390G>A | NP_001189444.1:p.Val130= | |
| NM_001202516.1:c.1020G>A | NP_001189445.1:p.Val340= | |
| NM_001202517.1:c.837G>A | NP_001189446.1:p.Val279= | |
| NM_001202518.1:c.837G>A | NP_001189447.1:p.Val279= | |
| NM_001202519.1:c.837G>A | NP_001189448.1:p.Val279= | |
| NM_001308042.1:c.1125G>A | NP_001294971.1:p.Val375= | |
| NM_003879.5:c.1125G>A | NP_003870.4:p.Val375= | |
| NM_001127183.3:c.1125G>A | NP_001120655.1:p.Val375= | |
| NM_001202516.2:c.1020G>A | NP_001189445.1:p.Val340= | |
| NM_001202517.2:c.837G>A | NP_001189446.1:p.Val279= | |
| NM_001202519.2:c.837G>A | NP_001189448.1:p.Val279= | |
| NM_001308042.2:c.1125G>A | NP_001294971.1:p.Val375= | |
| NM_001351590.1:c.1125G>A | NP_001338519.1:p.Val375= | |
| NM_001351593.1:c.837G>A | NP_001338522.1:p.Val279= | |
| NM_001351594.1:c.837G>A | NP_001338523.1:p.Val279= | |
| NM_003879.6:c.1125G>A | NP_003870.4:p.Val375= | |
| NR_147242.1:n.1493G>A | ||
| NR_147243.1:n.1359G>A | ||
| NR_147244.1:n.1359G>A | ||
| NR_147245.1:n.1640G>A | ||
| NR_147246.1:n.1501G>A | ||
| NR_147247.1:n.1640G>A | ||
| NR_147248.1:n.1222G>A | ||
| NR_147249.1:n.1222G>A | ||
| NR_147250.1:n.1557G>A | ||
| NR_147251.1:n.1640G>A | ||
| NR_147253.1:n.1673G>A | ||
| XM_017005189.2:c.1125G>A | XP_016860678.1:p.Val375= | |
| XM_017005190.2:c.1125G>A | XP_016860679.1:p.Val375= | |
| XM_017005191.2:c.1125G>A | XP_016860680.1:p.Val375= | |
| XM_017005193.2:c.1125G>A | XP_016860682.1:p.Val375= | |
| XM_017005195.2:c.837G>A | XP_016860684.1:p.Val279= | |
| XR_001739013.2:n.1578G>A | ||
| XR_001739016.2:n.3869G>A | ||
| XR_002959354.1:n.1487G>A | ||
| XR_002959355.1:n.1107G>A | ||
| NM_003879.7:c.1125G>A MANE Select | NP_003870.4:p.Val375= | |
| NM_001127183.4:c.1125G>A | NP_001120655.1:p.Val375= | |
| NM_001202516.3:c.1020G>A | NP_001189445.1:p.Val340= | |
| NM_001202517.3:c.837G>A | NP_001189446.1:p.Val279= | |
| NM_001202518.2:c.837G>A | NP_001189447.1:p.Val279= | |
| NM_001202519.3:c.837G>A | NP_001189448.1:p.Val279= | |
| NM_001308042.3:c.1125G>A | NP_001294971.1:p.Val375= | |
| NM_001351590.2:c.1125G>A | NP_001338519.1:p.Val375= | |
| NM_001351593.2:c.837G>A | NP_001338522.1:p.Val279= | |
| NM_001351594.2:c.837G>A | NP_001338523.1:p.Val279= | |
| NR_147242.2:n.1433G>A | ||
| NR_147243.2:n.1299G>A | ||
| NR_147244.2:n.1299G>A | ||
| NR_147245.2:n.1580G>A | ||
| NR_147246.2:n.1441G>A | ||
| NR_147247.2:n.1580G>A | ||
| NR_147248.2:n.1162G>A | ||
| NR_147249.2:n.1162G>A | ||
| NR_147250.2:n.1497G>A | ||
| NR_147251.2:n.1580G>A | ||
| NR_147253.2:n.1448G>A |