Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9893122C>T , CM000665.2:g.9893122C>T | GRCh38 |
| NC_000003.11:g.9934806C>T , CM000665.1:g.9934806C>T | GRCh37 |
| NC_000003.10:g.9909806C>T | NCBI36 |
| NG_041779.1:g.7536C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032492.4:c.297C>T MANE Select | NP_115881.3:p.Tyr99= |
| ENST00000647897.1:c.297C>T MANE Select | ENSP00000496942.1:p.Tyr99= |
| NM_001363890.1:c.135C>T | NP_001350819.1:p.Tyr45= |
| NM_032492.3:c.297C>T | NP_115881.3:p.Tyr99= |
| ENST00000307768.4:c.297C>T | ENSP00000306106.4:p.Tyr99= |
| ENST00000489724.2:c.*250C>T | ENSP00000497724.1:n.*250C>T |
| ENST00000616966.2:c.297C>T | ENSP00000481606.1:p.Tyr99= |