Linked Data
ClinVar Variation Id:
1505795
ClinVar RCV Id:
RCV001999602
dbSNP Id:
rs111033815
gnomAD v2:
9-34649536-C-A
gnomAD v3:
9-34649539-C-A
gnomAD v4:
9-34649539-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649539C>A , CM000671.2:g.34649539C>A | GRCh38 |
| NC_000009.11:g.34649536C>A , CM000671.1:g.34649536C>A | GRCh37 |
| NC_000009.10:g.34639536C>A | NCBI36 |
| NG_009029.1:g.7902C>A | |
| NG_028966.1:g.2355C>A | |
| NG_009029.2:g.7951C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*622C>A | ENSP00000509954.1:n.*622C>A | |
| ENST00000378842.8:c.1034C>A MANE Select | ENSP00000368119.4:p.Ala345Asp | |
| ENST00000378842.7:c.1034C>A | ENSP00000368119.3:p.Ala345Asp | |
| ENST00000450095.6:c.707C>A | ENSP00000401956.2:p.Ala236Asp | |
| ENST00000488412.2:n.618C>A | ||
| ENST00000489643.6:n.1442C>A | ||
| ENST00000554550.5:c.*654C>A | ENSP00000451435.1:n.*654C>A | |
| ENST00000554638.5:n.1506C>A | ||
| ENST00000555020.5:n.1823C>A | ||
| ENST00000555754.1:n.482C>A | ||
| ENST00000556278.1:c.432+1083C>A | ENSP00000451792.1:n.432+1083C>A | |
| ENST00000557706.5:n.1609C>A | ||
| NM_000155.3:c.1034C>A | NP_000146.2:p.Ala345Asp | |
| NM_001258332.1:c.707C>A | NP_001245261.1:p.Ala236Asp | |
| NM_000155.4:c.1034C>A MANE Select | NP_000146.2:p.Ala345Asp | |
| NM_001258332.2:c.707C>A | NP_001245261.1:p.Ala236Asp |