Linked Data
ClinVar Variation Id:
427763
ClinVar RCV Id:
RCV000490714
RCV001067182
RCV001535923
RCV001580504
RCV001273158
RCV003470594
RCV002279265
dbSNP Id:
rs139811782
ExAC:
1:21887691 G / A
gnomAD v2:
1-21887691-G-A
gnomAD v3:
1-21561198-G-A
gnomAD v4:
1-21561198-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21561198G>A , CM000663.2:g.21561198G>A | GRCh38 |
| NC_000001.10:g.21887691G>A , CM000663.1:g.21887691G>A | GRCh37 |
| NC_000001.9:g.21760278G>A | NCBI36 |
| NG_008940.1:g.56834G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.283G>A MANE Select | ENSP00000363973.3:p.Val95Met | |
| ENST00000374832.5:c.283G>A | ENSP00000363965.1:p.Val95Met | |
| ENST00000374840.7:c.283G>A | ENSP00000363973.3:p.Val95Met | |
| ENST00000468526.1:n.343G>A | ||
| ENST00000539907.5:c.66+453G>A | ENSP00000437674.1:n.66+453G>A | |
| ENST00000540617.5:c.118G>A | ENSP00000442672.1:p.Val40Met | |
| NM_000478.4:c.283G>A | NP_000469.3:p.Val95Met | |
| NM_001127501.2:c.118G>A | NP_001120973.2:p.Val40Met | |
| NM_001177520.1:c.66+453G>A | NP_001170991.1:n.66+453G>A | |
| XM_005245818.1:c.283G>A | XP_005245875.1:p.Val95Met | |
| XM_005245820.2:c.283G>A | XP_005245877.1:p.Val95Met | |
| XM_006710546.1:c.283G>A | XP_006710609.1:p.Val95Met | |
| NM_000478.5:c.283G>A | NP_000469.3:p.Val95Met | |
| NM_001127501.3:c.118G>A | NP_001120973.2:p.Val40Met | |
| NM_001177520.2:c.66+453G>A | NP_001170991.1:n.66+453G>A | |
| XM_006710546.3:c.283G>A | XP_006710609.1:p.Val95Met | |
| XM_017000903.1:c.127G>A | XP_016856392.1:p.Val43Met | |
| NM_000478.6:c.283G>A MANE Select | NP_000469.3:p.Val95Met | |
| NM_001127501.4:c.118G>A | NP_001120973.2:p.Val40Met | |
| NM_001177520.3:c.66+453G>A | NP_001170991.1:n.66+453G>A | |
| NM_001369803.2:c.283G>A | NP_001356732.1:p.Val95Met | |
| NM_001369804.2:c.283G>A | NP_001356733.1:p.Val95Met | |
| NM_001369805.2:c.283G>A | NP_001356734.1:p.Val95Met |