Linked Data
dbSNP Id:
rs941278850
gnomAD v2:
12-115112403-G-C
gnomAD v3:
12-114674598-G-C
gnomAD v4:
12-114674598-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674598G>C , CM000674.2:g.114674598G>C | GRCh38 |
| NC_000012.11:g.115112403G>C , CM000674.1:g.115112403G>C | GRCh37 |
| NC_000012.10:g.113596786G>C | NCBI36 |
| NG_008315.1:g.14567C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1277C>G MANE Select | ENSP00000257567.2:p.Thr426Ser | |
| ENST00000257566.7:c.1337C>G | ENSP00000257566.3:p.Thr446Ser | |
| ENST00000349155.6:c.1277C>G | ENSP00000257567.2:p.Thr426Ser | |
| ENST00000613550.1:c.1277C>G | ENSP00000480048.1:p.Thr426Ser | |
| NM_005996.3:c.1277C>G | NP_005987.3:p.Thr426Ser | |
| NM_016569.3:c.1337C>G | NP_057653.3:p.Thr446Ser | |
| NM_005996.4:c.1277C>G MANE Select | NP_005987.3:p.Thr426Ser | |
| NM_016569.4:c.1337C>G | NP_057653.3:p.Thr446Ser |