Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6625364T>C , CM000673.2:g.6625364T>C | GRCh38 |
| NC_000011.9:g.6646595T>C , CM000673.1:g.6646595T>C | GRCh37 |
| NC_000011.8:g.6603171T>C | NCBI36 |
| NG_033858.1:g.35486A>G | |
| NG_033858.2:g.35486A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.6980A>G MANE Select | NP_003728.1:p.Tyr2327Cys |
| ENST00000299441.5:c.6980A>G MANE Select | ENSP00000299441.3:p.Tyr2327Cys |
| NM_003737.3:c.6980A>G | NP_003728.1:p.Tyr2327Cys |
| ENST00000299441.4:c.6980A>G | ENSP00000299441.3:p.Tyr2327Cys |