Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781329A>T , CM000677.2:g.66781329A>T | GRCh38 |
| NC_000015.9:g.67073667A>T , CM000677.1:g.67073667A>T | GRCh37 |
| NC_000015.8:g.64860721A>T | NCBI36 |
| NG_012244.1:g.83994A>T | |
| NG_012244.2:g.83994A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005585.5:c.1285A>T MANE Select | NP_005576.3:p.Lys429Ter |
| ENST00000288840.10:c.1285A>T MANE Select | ENSP00000288840.5:p.Lys429Ter |
| NM_005585.4:c.1285A>T | NP_005576.3:p.Lys429Ter |
| NR_027654.1:n.2340A>T | |
| NR_027654.2:n.2440A>T | |
| ENST00000288840.9:c.1285A>T | ENSP00000288840.5:p.Lys429Ter |
| XM_011521561.1:c.502A>T | XP_011519863.1:p.Lys168Ter |
| XM_011521561.2:c.502A>T | XP_011519863.1:p.Lys168Ter |