Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128291573C>A , CM000667.2:g.128291573C>A | GRCh38 |
| NC_000005.9:g.127627265C>A , CM000667.1:g.127627265C>A | GRCh37 |
| NC_000005.8:g.127655164C>A | NCBI36 |
| NG_008750.1:g.251471G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.6248G>T MANE Select | NP_001990.2:p.Cys2083Phe |
| ENST00000262464.9:c.6248G>T MANE Select | ENSP00000262464.4:p.Cys2083Phe |
| NM_001999.3:c.6248G>T | NP_001990.2:p.Cys2083Phe |
| ENST00000262464.8:c.6248G>T | ENSP00000262464.4:p.Cys2083Phe |
| ENST00000508053.5:c.6248G>T | ENSP00000424571.1:p.Cys2083Phe |
| ENST00000619499.4:c.6245G>T | ENSP00000482132.1:p.Cys2082Phe |
| ENST00000703783.1:n.3032G>T | |
| ENST00000703785.1:n.2951G>T | |
| XM_017009228.2:c.6095G>T | XP_016864717.1:p.Cys2032Phe |