Linked Data
ClinVar Variation Id:
732975
ClinVar RCV Id:
RCV000908186
dbSNP Id:
rs149620252
ExAC:
9:90318048 G / T
gnomAD v2:
9-90318048-G-T
gnomAD v3:
9-87703133-G-T
gnomAD v4:
9-87703133-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.87703133G>T , CM000671.2:g.87703133G>T | GRCh38 |
| NC_000009.11:g.90318048G>T , CM000671.1:g.90318048G>T | GRCh37 |
| NC_000009.10:g.89507868G>T | NCBI36 |
| NG_029883.1:g.210293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408954.8:c.2976G>T MANE Select | ENSP00000386135.3:p.Val992= | |
| ENST00000358077.9:c.2976G>T | ENSP00000350785.5:p.Val992= | |
| ENST00000408954.7:c.2976G>T | ENSP00000386135.3:p.Val992= | |
| ENST00000469640.6:c.2778G>T | ENSP00000418885.3:p.Val926= | |
| ENST00000472284.5:c.2976G>T | ENSP00000417076.1:p.Val992= | |
| ENST00000489291.5:c.*2360G>T | ENSP00000417746.1:n.*2360G>T | |
| ENST00000491893.5:c.2778G>T | ENSP00000419026.1:p.Val926= | |
| ENST00000622514.4:c.2976G>T | ENSP00000484267.1:p.Val992= | |
| NM_001288729.1:c.2976G>T | NP_001275658.1:p.Val992= | |
| NM_001288730.1:c.2976G>T | NP_001275659.1:p.Val992= | |
| NM_001288731.1:c.2976G>T | NP_001275660.1:p.Val992= | |
| NM_004938.3:c.2976G>T | NP_004929.2:p.Val992= | |
| XM_017014360.1:c.1701G>T | XP_016869849.1:p.Val567= | |
| NM_004938.4:c.2976G>T MANE Select | NP_004929.2:p.Val992= | |
| NM_001288730.2:c.2976G>T | NP_001275659.1:p.Val992= | |
| NM_001288731.2:c.2976G>T | NP_001275660.1:p.Val992= | |
| NM_001288729.2:c.2976G>T | NP_001275658.1:p.Val992= |