Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738881C= , CM000674.2:g.120738881C= | GRCh38 |
| NC_000012.11:g.121176684C= , CM000674.1:g.121176684C= | GRCh37 |
| NC_000012.10:g.119661067C= | NCBI36 |
| NG_007991.1:g.18114C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.995C= MANE Select | ENSP00000242592.4:p.Ala332= | |
| ENST00000242592.8:c.995C= | ENSP00000242592.4:p.Ala332= | |
| ENST00000411593.2:c.983C= | ENSP00000401045.2:p.Ala328= | |
| NM_000017.3:c.995C= | NP_000008.1:p.Ala332= | |
| NM_001302554.1:c.983C= | NP_001289483.1:p.Ala328= | |
| NM_000017.4:c.995C= MANE Select | NP_000008.1:p.Ala332= | |
| NM_001302554.2:c.983C= | NP_001289483.1:p.Ala328= |