Linked Data
ClinVar Variation Id:
468317
dbSNP Id:
rs201370957
ExAC:
19:18266849 G / A
gnomAD v2:
19-18266849-G-A
gnomAD v3:
19-18156039-G-A
gnomAD v4:
19-18156039-G-A
ERepo:
CA9306657/MONDO:0100283/018
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156039G>A , CM000681.2:g.18156039G>A | GRCh38 |
| NC_000019.9:g.18266849G>A , CM000681.1:g.18266849G>A | GRCh37 |
| NC_000019.8:g.18127849G>A | NCBI36 |
| NG_033010.1:g.7862G>A | |
| NG_033010.2:g.7862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.160G>A MANE Select | ENSP00000222254.6:p.Val54Met | |
| ENST00000617130.5:c.160G>A | ENSP00000477864.2:p.Val54Met | |
| ENST00000617642.2:c.160G>A | ENSP00000484714.2:p.Val54Met | |
| ENST00000222254.12:c.160G>A | ENSP00000222254.6:p.Val54Met | |
| ENST00000426902.5:c.160G>A | ENSP00000395636.1:p.Val54Met | |
| ENST00000593731.1:c.160G>A | ENSP00000471914.1:p.Val54Met | |
| ENST00000617130.4:c.160G>A | ENSP00000477864.1:p.Val54Met | |
| ENST00000617642.1:c.160G>A | ENSP00000484714.1:p.Val54Met | |
| NM_005027.3:c.160G>A | NP_005018.1:p.Val54Met | |
| NR_073517.1:n.700G>A | ||
| NM_005027.4:c.160G>A MANE Select | NP_005018.2:p.Val54Met | |
| NR_073517.2:n.715G>A | ||
| NR_162071.1:n.715G>A |