Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352707C>T , CM000671.2:g.133352707C>T | GRCh38 |
| NC_000009.10:g.135209383C>T | NCBI36 |
| NG_008477.1:g.8800G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.575G>A MANE Select | NP_003163.1:p.Arg192Gln |
| ENST00000371974.8:c.575G>A MANE Select | ENSP00000361042.3:p.Arg192Gln |
| NM_001280787.1:c.248G>A | NP_001267716.1:p.Arg83Gln |
| NM_003172.3:c.575G>A | NP_003163.1:p.Arg192Gln |
| ENST00000371974.7:c.575G>A | ENSP00000361042.3:p.Arg192Gln |
| ENST00000437995.1:n.485G>A | |
| ENST00000495952.5:n.565G>A | |
| ENST00000615505.4:c.248G>A | ENSP00000482067.1:p.Arg83Gln |
| XM_011518942.1:c.248G>A | XP_011517244.1:p.Arg83Gln |