Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194503T>A , CM000666.2:g.186194503T>A | GRCh38 |
| NC_000004.11:g.187115657T>A , CM000666.1:g.187115657T>A | GRCh37 |
| NC_000004.10:g.187352651T>A | NCBI36 |
| NG_007965.1:g.7984T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.218T>A MANE Select | NP_997235.3:p.Phe73Tyr |
| ENST00000378802.5:c.218T>A MANE Select | ENSP00000368079.4:p.Phe73Tyr |
| NM_207352.3:c.218T>A | NP_997235.3:p.Phe73Tyr |
| ENST00000378802.4:c.218T>A | ENSP00000368079.4:p.Phe73Tyr |
| XM_005262935.2:c.218T>A | XP_005262992.1:p.Phe73Tyr |
| XM_005262935.4:c.218T>A | XP_005262992.1:p.Phe73Tyr |
| XM_017008037.1:c.-93T>A | XP_016863526.1:n.-93T>A |