Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352566C>A , CM000671.2:g.133352566C>A | GRCh38 |
| NC_000009.10:g.135209242C>A | NCBI36 |
| NG_008477.1:g.8941G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.631G>T MANE Select | ENSP00000361042.3:p.Glu211Ter | |
| ENST00000371974.7:c.631G>T | ENSP00000361042.3:p.Glu211Ter | |
| ENST00000437995.1:n.541G>T | ||
| ENST00000495952.5:n.621G>T | ||
| ENST00000615505.4:c.304G>T | ENSP00000482067.1:p.Glu102Ter | |
| NM_001280787.1:c.304G>T | NP_001267716.1:p.Glu102Ter | |
| NM_003172.3:c.631G>T | NP_003163.1:p.Glu211Ter | |
| XM_011518942.1:c.304G>T | XP_011517244.1:p.Glu102Ter | |
| NM_003172.4:c.631G>T MANE Select | NP_003163.1:p.Glu211Ter |