Linked Data
ClinVar Variation Id:
2969591
ClinVar RCV Id:
RCV003821725
dbSNP Id:
rs371349704
ExAC:
2:45233402 G / A
gnomAD v2:
2-45233402-G-A
gnomAD v3:
2-45006263-G-A
gnomAD v4:
2-45006263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.45006263G>A , CM000664.2:g.45006263G>A | GRCh38 |
| NC_000002.11:g.45233402G>A , CM000664.1:g.45233402G>A | GRCh37 |
| NC_000002.10:g.45086906G>A | NCBI36 |
| NG_009360.1:g.8141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303077.7:c.783C>T MANE Select | ENSP00000304502.6:p.Gly261= | |
| ENST00000303077.6:c.783C>T | ENSP00000304502.6:p.Gly261= | |
| NM_016932.4:c.783C>T | NP_058628.3:p.Gly261= | |
| XM_005264100.2:c.789C>T | XP_005264157.1:p.Gly263= | |
| XM_005264100.3:c.789C>T | XP_005264157.1:p.Gly263= | |
| NM_016932.5:c.783C>T MANE Select | NP_058628.3:p.Gly261= |