Linked Data
ClinVar Variation Id:
529119
ClinVar RCV Id:
RCV000634419
dbSNP Id:
rs769248913
gnomAD v3:
7-83392585-C-T
gnomAD v4:
7-83392585-C-T
COSMIC:
COSM3031938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392585C>T , CM000669.2:g.83392585C>T | GRCh38 |
| NC_000007.13:g.83021901C>T , CM000669.1:g.83021901C>T | GRCh37 |
| NC_000007.12:g.82859837C>T | NCBI36 |
| NG_021242.1:g.261579G>A | |
| NG_021242.2:g.261579G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427262.6:c.1457G>A | ENSP00000405052.1:p.Arg486Gln | |
| ENST00000642232.1:c.1637G>A | ENSP00000494064.1:p.Arg546Gln | |
| ENST00000643230.2:c.1637G>A MANE Select | ENSP00000496491.1:p.Arg546Gln | |
| ENST00000643441.1:n.1622G>A | ||
| ENST00000307792.7:c.1637G>A | ENSP00000303212.3:p.Arg546Gln | |
| ENST00000427262.5:c.1457G>A | ENSP00000405052.1:p.Arg486Gln | |
| NM_001178129.1:c.1457G>A | NP_001171600.1:p.Arg486Gln | |
| NM_012431.2:c.1637G>A | NP_036563.1:p.Arg546Gln | |
| XM_011516715.1:c.1637G>A | XP_011515017.1:p.Arg546Gln | |
| NM_012431.3:c.1637G>A MANE Select | NP_036563.1:p.Arg546Gln | |
| NM_001178129.2:c.1457G>A | NP_001171600.1:p.Arg486Gln |