Linked Data
ClinVar Variation Id:
2255
ClinVar RCV Id:
RCV000002343
dbSNP Id:
rs119103273
ExAC:
7:74197404 G / A
gnomAD v2:
7-74197404-G-A
gnomAD v3:
7-74783061-G-A
gnomAD v4:
7-74783061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74783061G>A , CM000669.2:g.74783061G>A | GRCh38 |
| NC_000007.13:g.74197404G>A , CM000669.1:g.74197404G>A | GRCh37 |
| NC_000007.12:g.73835340G>A | NCBI36 |
| NG_009078.2:g.14098G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289473.11:c.574G>A MANE Select | ENSP00000289473.4:p.Gly192Ser | |
| ENST00000289473.10:c.574G>A | ENSP00000289473.4:p.Gly192Ser | |
| ENST00000289473.8:c.574G>A | ENSP00000289473.4:p.Gly192Ser | |
| ENST00000398421.6:n.668G>A | ||
| ENST00000443956.7:n.695G>A | ||
| ENST00000449343.6:n.595G>A | ||
| ENST00000455062.2:n.258G>A | ||
| ENST00000464878.5:c.424G>A | ||
| ENST00000488197.1:n.563G>A | ||
| NM_000265.5:c.574G>A | NP_000256.4:p.Gly192Ser | |
| XM_005250543.3:c.574G>A | XP_005250600.2:p.Gly192Ser | |
| XM_005250544.3:c.574G>A | XP_005250601.2:p.Gly192Ser | |
| XM_011516498.1:c.574G>A | XP_011514800.1:p.Gly192Ser | |
| XM_011516499.1:c.574G>A | XP_011514801.1:p.Gly192Ser | |
| XM_011516500.1:c.574G>A | XP_011514802.1:p.Gly192Ser | |
| XM_011516501.1:c.181G>A | XP_011514803.1:p.Gly61Ser | |
| XR_242262.3:n.629G>A | ||
| XR_927515.1:n.629G>A | ||
| NM_000265.6:c.574G>A | NP_000256.4:p.Gly192Ser | |
| NM_000265.7:c.574G>A MANE Select | NP_000256.4:p.Gly192Ser |