Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154929032C>T , CM000685.2:g.154929032C>T | GRCh38 |
| NC_000023.10:g.154157307C>T , CM000685.1:g.154157307C>T | GRCh37 |
| NC_000023.9:g.153810501C>T | NCBI36 |
| NG_011403.1:g.98692G>A | |
| NG_011403.2:g.98692G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.4758G>A MANE Select | NP_000123.1:p.Trp1586Ter |
| ENST00000360256.9:c.4758G>A MANE Select | ENSP00000353393.4:p.Trp1586Ter |
| NM_000132.3:c.4758G>A | NP_000123.1:p.Trp1586Ter |
| ENST00000360256.8:c.4758G>A | ENSP00000353393.4:p.Trp1586Ter |
| XM_011531126.1:c.4653G>A | XP_011529428.1:p.Trp1551Ter |