Linked Data
dbSNP Id:
rs542317739
ExAC:
10:121436208 C / G
gnomAD v2:
10-121436208-C-G
gnomAD v3:
10-119676696-C-G
gnomAD v4:
10-119676696-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676696C>G , CM000672.2:g.119676696C>G | GRCh38 |
| NC_000010.10:g.121436208C>G , CM000672.1:g.121436208C>G | GRCh37 |
| NC_000010.9:g.121426198C>G | NCBI36 |
| NG_016125.1:g.30327C>G , LRG_742:g.30327C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1142C>G MANE Select | ENSP00000358081.4:p.Ser381Cys | |
| ENST00000369085.7:c.1142C>G | ENSP00000358081.3:p.Ser381Cys | |
| ENST00000450186.1:c.965C>G | ENSP00000410036.1:p.Ser322Cys | |
| NM_004281.3:c.1142C>G , LRG_742t1:c.1142C>G | NP_004272.2:p.Ser381Cys | |
| XM_005270287.1:c.1139C>G | XP_005270344.1:p.Ser380Cys | |
| XM_005270287.2:c.1139C>G | XP_005270344.1:p.Ser380Cys | |
| NM_004281.4:c.1142C>G MANE Select | NP_004272.2:p.Ser381Cys |