Linked Data
dbSNP Id:
rs758705956
ExAC:
1:216420244 T / A
gnomAD v2:
1-216420244-T-A
gnomAD v3:
1-216246902-T-A
gnomAD v4:
1-216246902-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246902T>A , CM000663.2:g.216246902T>A | GRCh38 |
| NC_000001.10:g.216420244T>A , CM000663.1:g.216420244T>A | GRCh37 |
| NC_000001.9:g.214486867T>A | NCBI36 |
| NG_009497.1:g.181495A>T | |
| NG_009497.2:g.181547A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2492A>T MANE Select | ENSP00000305941.3:p.Glu831Val | |
| ENST00000674083.1:c.2492A>T | ENSP00000501296.1:p.Glu831Val | |
| ENST00000307340.7:c.2492A>T | ENSP00000305941.3:p.Glu831Val | |
| ENST00000366942.3:c.2492A>T | ENSP00000355909.3:p.Glu831Val | |
| NM_007123.5:c.2492A>T | NP_009054.5:p.Glu831Val | |
| NM_206933.2:c.2492A>T | NP_996816.2:p.Glu831Val | |
| NM_206933.3:c.2492A>T | NP_996816.2:p.Glu831Val | |
| NM_007123.6:c.2492A>T | NP_009054.6:p.Glu831Val | |
| NM_206933.4:c.2492A>T MANE Select | NP_996816.3:p.Glu831Val |