Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154984729T>A , CM000685.2:g.154984729T>A | GRCh38 |
| NC_000023.10:g.154213004T>A , CM000685.1:g.154213004T>A | GRCh37 |
| NC_000023.9:g.153866198T>A | NCBI36 |
| NG_011403.1:g.42995A>T | |
| NG_011403.2:g.42995A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.745A>T MANE Select | NP_000123.1:p.Lys249Ter |
| ENST00000360256.9:c.745A>T MANE Select | ENSP00000353393.4:p.Lys249Ter |
| NM_000132.3:c.745A>T | NP_000123.1:p.Lys249Ter |
| ENST00000360256.8:c.745A>T | ENSP00000353393.4:p.Lys249Ter |
| ENST00000423959.5:c.640A>T | ENSP00000409446.1:p.Lys214Ter |
| ENST00000647125.1:c.*531A>T | ENSP00000496062.1:n.*531A>T |
| XM_011531126.1:c.640A>T | XP_011529428.1:p.Lys214Ter |