Linked Data
ClinVar Variation Id:
2230830
ClinVar RCV Id:
RCV002703020
dbSNP Id:
rs372281787
ExAC:
19:7591665 G / A
gnomAD v2:
19-7591665-G-A
gnomAD v3:
19-7526779-G-A
gnomAD v4:
19-7526779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526779G>A , CM000681.2:g.7526779G>A | GRCh38 |
| NC_000019.9:g.7591665G>A , CM000681.1:g.7591665G>A | GRCh37 |
| NC_000019.8:g.7497665G>A | NCBI36 |
| NG_015806.1:g.9170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.424G>A MANE Select | ENSP00000264079.5:p.Val142Met | |
| ENST00000264079.10:c.424G>A | ENSP00000264079.5:p.Val142Met | |
| ENST00000394321.9:n.504G>A | ||
| ENST00000596008.1:n.386G>A | ||
| ENST00000598406.1:n.245G>A | ||
| ENST00000601003.1:c.424G>A | ENSP00000469074.1:p.Val142Met | |
| NM_020533.2:c.424G>A | NP_065394.1:p.Val142Met | |
| NM_020533.3:c.424G>A MANE Select | NP_065394.1:p.Val142Met |