dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92336070C>G , CM000675.2:g.92336070C>G | GRCh38 |
| NC_000013.10:g.92988323C>G , CM000675.1:g.92988323C>G | GRCh37 |
| NC_000013.9:g.91786324C>G | NCBI36 |
| NG_009370.1:g.942389C>G | |
| NG_009370.2:g.942390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377067.9:c.1561+191081C>G MANE Select | ENSP00000366267.3:n.1561+191081C>G | |
| ENST00000377067.8:c.1561+191081C>G | ENSP00000366267.3:n.1561+191081C>G | |
| NM_004466.5:c.1561+191081C>G | NP_004457.1:n.1561+191081C>G | |
| XM_017020435.2:c.1561+191081C>G | XP_016875924.1:n.1561+191081C>G | |
| NM_004466.6:c.1561+191081C>G MANE Select | NP_004457.1:n.1561+191081C>G |