Linked Data
ClinVar Variation Id:
1382300
ClinVar RCV Id:
RCV001897570
dbSNP Id:
rs774801839
ExAC:
12:121174804 G / A
gnomAD v2:
12-121174804-G-A
gnomAD v3:
12-120737001-G-A
gnomAD v4:
12-120737001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737001G>A , CM000674.2:g.120737001G>A | GRCh38 |
| NC_000012.11:g.121174804G>A , CM000674.1:g.121174804G>A | GRCh37 |
| NC_000012.10:g.119659187G>A | NCBI36 |
| NG_007991.1:g.16234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.226G>A MANE Select | ENSP00000242592.4:p.Gly76Arg | |
| ENST00000242592.8:c.226G>A | ENSP00000242592.4:p.Gly76Arg | |
| ENST00000411593.2:c.226G>A | ENSP00000401045.2:p.Gly76Arg | |
| ENST00000539690.1:n.338G>A | ||
| NM_000017.3:c.226G>A | NP_000008.1:p.Gly76Arg | |
| NM_001302554.1:c.226G>A | NP_001289483.1:p.Gly76Arg | |
| NM_000017.4:c.226G>A MANE Select | NP_000008.1:p.Gly76Arg | |
| NM_001302554.2:c.226G>A | NP_001289483.1:p.Gly76Arg |