Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.92232117C= , CM000675.2:g.92232117C= | GRCh38 |
| NC_000013.10:g.92884370C= , CM000675.1:g.92884370C= | GRCh37 |
| NC_000013.9:g.91682371C= | NCBI36 |
| NG_009370.1:g.838436C= | |
| NG_009370.2:g.838437C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004466.6:c.1561+87128C= MANE Select | NP_004457.1:n.1561+87128C= |
| ENST00000377067.9:c.1561+87128C= MANE Select | ENSP00000366267.3:n.1561+87128C= |
| NM_004466.5:c.1561+87128C= | NP_004457.1:n.1561+87128C= |
| ENST00000377067.8:c.1561+87128C= | ENSP00000366267.3:n.1561+87128C= |
| XM_017020435.2:c.1561+87128C= | XP_016875924.1:n.1561+87128C= |