Linked Data
dbSNP Id:
rs374532038
gnomAD v2:
13-113803722-C-G
gnomAD v3:
13-113149408-C-G
gnomAD v4:
13-113149408-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149408C>G , CM000675.2:g.113149408C>G | GRCh38 |
| NC_000013.10:g.113803722C>G , CM000675.1:g.113803722C>G | GRCh37 |
| NC_000013.9:g.112851723C>G | NCBI36 |
| NG_009258.1:g.31610C>G , LRG_548:g.31610C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1358C>G MANE Select | ENSP00000364709.3:p.Thr453Ser | |
| ENST00000375551.7:c.*349C>G | ENSP00000364701.3:n.*349C>G | |
| ENST00000375559.7:c.1358C>G | ENSP00000364709.3:p.Thr453Ser | |
| ENST00000409306.5:c.*349C>G | ENSP00000387092.1:n.*349C>G | |
| NM_000504.3:c.1358C>G , LRG_548t1:c.1358C>G | NP_000495.1:p.Thr453Ser | |
| NM_001312674.1:c.1226C>G | NP_001299603.1:p.Thr409Ser | |
| NM_001312675.1:c.*349C>G | NP_001299604.1:n.*349C>G | |
| NM_000504.4:c.1358C>G MANE Select | NP_000495.1:p.Thr453Ser | |
| NM_001312674.2:c.1226C>G | NP_001299603.1:p.Thr409Ser | |
| NM_001312675.2:c.*349C>G | NP_001299604.1:n.*349C>G |