Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781495G>A , CM000677.2:g.66781495G>A | GRCh38 |
| NC_000015.9:g.67073833G>A , CM000677.1:g.67073833G>A | GRCh37 |
| NC_000015.8:g.64860887G>A | NCBI36 |
| NG_012244.1:g.84160G>A | |
| NG_012244.2:g.84160G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.1451G>A MANE Select | NP_005576.3:p.Cys484Tyr |
| ENST00000288840.10:c.1451G>A MANE Select | ENSP00000288840.5:p.Cys484Tyr |
| NM_005585.4:c.1451G>A | NP_005576.3:p.Cys484Tyr |
| NR_027654.1:n.2506G>A | |
| NR_027654.2:n.2606G>A | |
| ENST00000288840.9:c.1451G>A | ENSP00000288840.5:p.Cys484Tyr |
| XM_011521561.1:c.668G>A | XP_011519863.1:p.Cys223Tyr |
| XM_011521561.2:c.668G>A | XP_011519863.1:p.Cys223Tyr |