Linked Data
ClinVar Variation Id:
14366
ClinVar RCV Id:
RCV000015442
dbSNP Id:
rs121913551
ExAC:
1:12034713 G / A
gnomAD v2:
1-12034713-G-A
gnomAD v3:
1-11974656-G-A
gnomAD v4:
1-11974656-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11974656G>A , CM000663.2:g.11974656G>A | GRCh38 |
| NC_000001.10:g.12034713G>A , CM000663.1:g.12034713G>A | GRCh37 |
| NC_000001.9:g.11957300G>A | NCBI36 |
| NG_008159.1:g.44968G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196061.5:c.2032G>A MANE Select | ENSP00000196061.4:p.Gly678Arg | |
| ENST00000196061.4:c.2032G>A | ENSP00000196061.4:p.Gly678Arg | |
| ENST00000481933.1:n.1459G>A | ||
| ENST00000491536.5:n.384-627G>A | ||
| NM_000302.3:c.2032G>A | NP_000293.2:p.Gly678Arg | |
| NM_001316320.1:c.2173G>A | NP_001303249.1:p.Gly725Arg | |
| XM_011541594.1:c.2113G>A | XP_011539896.1:p.Gly705Arg | |
| XM_024447707.1:c.1366G>A | XP_024303475.1:p.Gly456Arg | |
| NM_000302.4:c.2032G>A MANE Select | NP_000293.2:p.Gly678Arg | |
| NM_001316320.2:c.2173G>A | NP_001303249.1:p.Gly725Arg |