Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529335G>A , CM000685.2:g.74529335G>A | GRCh38 |
| NC_000023.10:g.73749170G>A , CM000685.1:g.73749170G>A | GRCh37 |
| NC_000023.9:g.73665895G>A | NCBI36 |
| NG_011641.1:g.113086G>A | |
| NG_011641.2:g.113086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1293G>A MANE Select | ENSP00000465734.1:p.Met431Ile | |
| ENST00000636771.1:c.1202G>A | ||
| ENST00000587091.5:c.1293G>A | ENSP00000465734.1:p.Met431Ile | |
| ENST00000590447.1:c.611-1998G>A | ||
| NM_006517.4:c.1293G>A | NP_006508.2:p.Met431Ile | |
| XM_005262294.1:c.1171-1998G>A | XP_005262351.1:n.1171-1998G>A | |
| NM_006517.5:c.1293G>A MANE Select | NP_006508.2:p.Met431Ile |