Linked Data
dbSNP Id:
rs1253954118
gnomAD v2:
13-113803692-G-T
gnomAD v3:
13-113149378-G-T
gnomAD v4:
13-113149378-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149378G>T , CM000675.2:g.113149378G>T | GRCh38 |
| NC_000013.10:g.113803692G>T , CM000675.1:g.113803692G>T | GRCh37 |
| NC_000013.9:g.112851693G>T | NCBI36 |
| NG_009258.1:g.31580G>T , LRG_548:g.31580G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1328G>T MANE Select | ENSP00000364709.3:p.Cys443Phe | |
| ENST00000375551.7:c.*319G>T | ENSP00000364701.3:n.*319G>T | |
| ENST00000375559.7:c.1328G>T | ENSP00000364709.3:p.Cys443Phe | |
| ENST00000409306.5:c.*319G>T | ENSP00000387092.1:n.*319G>T | |
| NM_000504.3:c.1328G>T , LRG_548t1:c.1328G>T | NP_000495.1:p.Cys443Phe | |
| NM_001312674.1:c.1196G>T | NP_001299603.1:p.Cys399Phe | |
| NM_001312675.1:c.*319G>T | NP_001299604.1:n.*319G>T | |
| NM_000504.4:c.1328G>T MANE Select | NP_000495.1:p.Cys443Phe | |
| NM_001312674.2:c.1196G>T | NP_001299603.1:p.Cys399Phe | |
| NM_001312675.2:c.*319G>T | NP_001299604.1:n.*319G>T |