Linked Data
ClinVar Variation Id:
2446613
ClinVar RCV Id:
RCV003159443
dbSNP Id:
rs778899499
ExAC:
4:3519821 T / C
gnomAD v2:
4-3519821-T-C
gnomAD v3:
4-3518094-T-C
gnomAD v4:
4-3518094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518094T>C , CM000666.2:g.3518094T>C | GRCh38 |
| NC_000004.11:g.3519821T>C , CM000666.1:g.3519821T>C | GRCh37 |
| NC_000004.10:g.3489619T>C | NCBI36 |
| NG_033873.1:g.19404A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.691A>G | ENSP00000496947.1:p.Ile231Val | |
| ENST00000650182.1:c.691A>G MANE Select | ENSP00000497444.1:p.Ile231Val | |
| ENST00000296325.9:n.654A>G | ||
| ENST00000500728.2:c.691A>G | ENSP00000421922.1:p.Ile231Val | |
| ENST00000509198.1:n.737A>G | ||
| ENST00000515119.5:c.*468A>G | ENSP00000421648.1:n.*468A>G | |
| NM_002337.3:c.691A>G | NP_002328.1:p.Ile231Val | |
| NR_110005.1:n.654A>G | ||
| NM_002337.4:c.691A>G MANE Select | NP_002328.1:p.Ile231Val | |
| XR_002959730.1:n.776A>G | ||
| NR_110005.2:n.654A>G |