Linked Data
dbSNP Id:
rs1316276605
gnomAD v2:
9-119628402-C-G
gnomAD v3:
9-116866123-C-G
gnomAD v4:
9-116866123-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116866123C>G , CM000671.2:g.116866123C>G | GRCh38 |
| NC_000009.11:g.119628402C>G , CM000671.1:g.119628402C>G | GRCh37 |
| NC_000009.10:g.118668223C>G | NCBI36 |
| NG_021409.1:g.553916G>C | |
| NG_021409.2:g.553935G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313400.9:c.1890-2390G>C MANE Select | ENSP00000314038.4:n.1890-2390G>C | |
| ENST00000361477.8:c.1737-2390G>C | ENSP00000355116.5:n.1737-2390G>C | |
| ENST00000313400.8:c.1890-2390G>C | ENSP00000314038.4:n.1890-2390G>C | |
| ENST00000361209.6:c.1737-2390G>C | ENSP00000354504.2:n.1737-2390G>C | |
| ENST00000361477.7:c.-955-2390G>C | ENSP00000355116.4:n.-955-2390G>C | |
| ENST00000373986.7:c.1059-2390G>C | ENSP00000363098.3:n.1059-2390G>C | |
| NM_014010.4:c.1737-2390G>C | NP_054729.3:n.1737-2390G>C | |
| NM_001365068.1:c.1890-2390G>C MANE Select | NP_001351997.1:n.1890-2390G>C | |
| NM_001365069.1:c.1878-2390G>C | NP_001351998.1:n.1878-2390G>C | |
| NM_014010.5:c.1737-2390G>C | NP_054729.3:n.1737-2390G>C |