Linked Data
ClinVar Variation Id:
1494789
ClinVar RCV Id:
RCV002015099
dbSNP Id:
rs1817625926
gnomAD v3:
9-6556157-G-T
gnomAD v4:
9-6556157-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556157G>T , CM000671.2:g.6556157G>T | GRCh38 |
| NC_000009.11:g.6556157G>T , CM000671.1:g.6556157G>T | GRCh37 |
| NC_000009.10:g.6546157G>T | NCBI36 |
| NG_016397.1:g.94536C>A , LRG_643:g.94536C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2198C>A MANE Select | ENSP00000370737.4:p.Ala733Asp | |
| ENST00000638233.1:n.633C>A | ||
| ENST00000638661.1:c.398C>A | ENSP00000491369.1:p.Ala133Asp | |
| ENST00000638694.1:n.385C>A | ||
| ENST00000639318.1:c.398C>A | ENSP00000491932.1:p.Ala133Asp | |
| ENST00000639364.1:n.1898C>A | ||
| ENST00000639443.1:n.1766C>A | ||
| ENST00000639954.1:n.1906C>A | ||
| ENST00000640505.1:n.437C>A | ||
| ENST00000321612.6:c.2198C>A | ENSP00000370737.3:p.Ala733Asp | |
| NM_000170.2:c.2198C>A , LRG_643t1:c.2198C>A | NP_000161.2:p.Ala733Asp | |
| NM_000170.3:c.2198C>A MANE Select | NP_000161.2:p.Ala733Asp |