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