Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854657C= , CM000671.2:g.97854657C= | GRCh38 |
| NC_000009.11:g.100616939C= , CM000671.1:g.100616939C= | GRCh37 |
| NC_000009.10:g.99656760C= | NCBI36 |
| NG_011979.1:g.6403C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.743C= MANE Select | ENSP00000364265.3:p.Ala248= | |
| ENST00000375123.4:c.743C= | ENSP00000364265.3:p.Ala248= | |
| NM_004473.3:c.743C= | NP_004464.2:p.Ala248= | |
| NM_004473.4:c.743C= MANE Select | NP_004464.2:p.Ala248= |