Linked Data
dbSNP Id:
rs142632089
ExAC:
21:39671516 G / A
gnomAD v2:
21-39671516-G-A
gnomAD v3:
21-38299594-G-A
gnomAD v4:
21-38299594-G-A
COSMIC:
COSM3550654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38299594G>A , CM000683.2:g.38299594G>A | GRCh38 |
| NC_000021.8:g.39671516G>A , CM000683.1:g.39671516G>A | GRCh37 |
| NC_000021.7:g.38593386G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398938.7:c.333G>A MANE Select | ENSP00000381911.2:p.Val111= | |
| ENST00000328656.8:c.333G>A | ENSP00000331698.3:p.Val111= | |
| ENST00000398927.1:c.333G>A | ENSP00000381901.1:p.Val111= | |
| ENST00000398928.5:c.333G>A | ENSP00000381902.1:p.Val111= | |
| ENST00000398930.5:c.333G>A | ENSP00000381904.1:p.Val111= | |
| ENST00000398932.5:c.333G>A | ENSP00000381905.1:p.Val111= | |
| ENST00000398934.5:c.333G>A | ENSP00000381907.1:p.Val111= | |
| ENST00000398938.6:c.333G>A | ENSP00000381911.2:p.Val111= | |
| ENST00000419868.1:c.333G>A | ENSP00000400849.1:p.Val111= | |
| ENST00000438657.5:c.333G>A | ENSP00000414487.1:p.Val111= | |
| ENST00000612702.4:c.333G>A | ENSP00000484960.1:p.Val111= | |
| ENST00000613499.4:c.333G>A | ENSP00000479100.1:p.Val111= | |
| NM_001276435.1:c.333G>A | NP_001263364.1:p.Val111= | |
| NM_001276436.1:c.333G>A | NP_001263365.1:p.Val111= | |
| NM_001276437.1:c.333G>A | NP_001263366.1:p.Val111= | |
| NM_001276438.1:c.333G>A | NP_001263367.1:p.Val111= | |
| NM_001276439.1:c.333G>A | NP_001263368.1:p.Val111= | |
| NM_002243.4:c.333G>A | NP_002234.2:p.Val111= | |
| NM_170736.2:c.333G>A | NP_733932.1:p.Val111= | |
| NM_170737.2:c.333G>A | NP_733933.1:p.Val111= | |
| XM_005260975.2:c.333G>A | XP_005261032.1:p.Val111= | |
| XM_006724002.2:c.333G>A | XP_006724065.1:p.Val111= | |
| XM_011529560.1:c.333G>A | XP_011527862.1:p.Val111= | |
| XM_011529561.1:c.333G>A | XP_011527863.1:p.Val111= | |
| XM_011529560.2:c.333G>A | XP_011527862.1:p.Val111= | |
| XM_011529561.2:c.333G>A | XP_011527863.1:p.Val111= | |
| XM_017028343.1:c.333G>A | XP_016883832.1:p.Val111= | |
| XM_017028344.1:c.333G>A | XP_016883833.1:p.Val111= | |
| XM_017028345.1:c.333G>A | XP_016883834.1:p.Val111= | |
| NM_170736.3:c.333G>A MANE Select | NP_733932.1:p.Val111= | |
| NM_001276437.2:c.333G>A | NP_001263366.1:p.Val111= | |
| NM_001276438.2:c.333G>A | NP_001263367.1:p.Val111= | |
| NM_001276439.2:c.333G>A | NP_001263368.1:p.Val111= | |
| NM_002243.5:c.333G>A | NP_002234.2:p.Val111= | |
| NM_001276435.2:c.333G>A | NP_001263364.1:p.Val111= | |
| NM_001276436.2:c.333G>A | NP_001263365.1:p.Val111= | |
| NM_170737.3:c.333G>A | NP_733933.1:p.Val111= |