Linked Data
dbSNP Id:
rs770973548
ExAC:
12:53701276 G / C
gnomAD v2:
12-53701276-G-C
gnomAD v4:
12-53307492-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307492G>C , CM000674.2:g.53307492G>C | GRCh38 |
| NC_000012.11:g.53701276G>C , CM000674.1:g.53701276G>C | GRCh37 |
| NC_000012.10:g.51987543G>C | NCBI36 |
| NG_016775.1:g.19137C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1638C>G MANE Select | ENSP00000209873.4:p.Leu546= | |
| ENST00000547757.2:c.*556C>G | ENSP00000448020.2:n.*556C>G | |
| ENST00000548931.6:c.1073C>G | ENSP00000457518.1:p.Ser358Cys | |
| ENST00000549450.6:n.1572C>G | ||
| ENST00000209873.8:c.1638C>G | ENSP00000209873.4:p.Leu546= | |
| ENST00000394384.7:c.1539C>G | ENSP00000377908.3:p.Leu513= | |
| ENST00000548931.5:c.1073C>G | ENSP00000457518.1:p.Ser358Cys | |
| ENST00000550286.5:c.1266C>G | ENSP00000446885.1:p.Leu422= | |
| ENST00000552876.5:n.1981C>G | ||
| NM_001173466.1:c.1539C>G | NP_001166937.1:p.Leu513= | |
| NM_015665.5:c.1638C>G | NP_056480.1:p.Leu546= | |
| XM_006719617.2:c.1653C>G | XP_006719680.1:p.Leu551= | |
| XM_011538777.1:c.1695C>G | XP_011537079.1:p.Leu565= | |
| XM_011538778.1:c.1680C>G | XP_011537080.1:p.Leu560= | |
| XM_011538779.1:c.1596C>G | XP_011537081.1:p.Leu532= | |
| XM_011538780.1:c.1581C>G | XP_011537082.1:p.Leu527= | |
| XM_011538781.1:c.1029C>G | XP_011537083.1:p.Leu343= | |
| XM_011538778.2:c.1680C>G | XP_011537080.1:p.Leu560= | |
| XM_011538780.2:c.1581C>G | XP_011537082.1:p.Leu527= | |
| XR_001748875.2:n.1695C>G | ||
| NM_015665.6:c.1638C>G MANE Select | NP_056480.1:p.Leu546= | |
| NM_001173466.2:c.1539C>G | NP_001166937.1:p.Leu513= |