Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41621643T>A , CM000679.2:g.41621643T>A | GRCh38 |
| NC_000017.10:g.39777895T>A , CM000679.1:g.39777895T>A | GRCh37 |
| NC_000017.9:g.37031421T>A | NCBI36 |
| NG_008625.1:g.7988A>T | |
| NG_009090.2:g.170070A>T , LRG_401:g.170070A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000422.3:c.784A>T MANE Select | NP_000413.1:p.Lys262Ter |
| ENST00000311208.13:c.784A>T MANE Select | ENSP00000308452.8:p.Lys262Ter |
| NM_000422.2:c.784A>T | NP_000413.1:p.Lys262Ter |
| ENST00000311208.12:c.784A>T | ENSP00000308452.8:p.Lys262Ter |
| ENST00000463128.5:c.169A>T | ENSP00000468672.1:p.Lys57Ter |
| ENST00000493253.5:n.1171A>T | |
| ENST00000540235.5:c.535A>T | ENSP00000441751.2:p.Lys179Ter |
| ENST00000577817.3:c.679A>T | ENSP00000467418.1:p.Lys227Ter |