Linked Data
ClinVar Variation Id:
913712
ClinVar RCV Id:
RCV001167487
dbSNP Id:
rs1010614777
gnomAD v4:
9-6556295-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556295T>A , CM000671.2:g.6556295T>A | GRCh38 |
| NC_000009.11:g.6556295T>A , CM000671.1:g.6556295T>A | GRCh37 |
| NC_000009.10:g.6546295T>A | NCBI36 |
| NG_016397.1:g.94398A>T , LRG_643:g.94398A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2060A>T MANE Select | ENSP00000370737.4:p.Lys687Met | |
| ENST00000638233.1:n.495A>T | ||
| ENST00000638661.1:c.260A>T | ENSP00000491369.1:p.Lys87Met | |
| ENST00000638694.1:n.247A>T | ||
| ENST00000639318.1:c.260A>T | ENSP00000491932.1:p.Lys87Met | |
| ENST00000639364.1:n.1760A>T | ||
| ENST00000639443.1:n.1628A>T | ||
| ENST00000639954.1:n.1768A>T | ||
| ENST00000640505.1:n.299A>T | ||
| ENST00000321612.6:c.2060A>T | ENSP00000370737.3:p.Lys687Met | |
| NM_000170.2:c.2060A>T , LRG_643t1:c.2060A>T | NP_000161.2:p.Lys687Met | |
| NM_000170.3:c.2060A>T MANE Select | NP_000161.2:p.Lys687Met |