Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001613C>T , CM000664.2:g.21001613C>T | GRCh38 |
| NC_000002.11:g.21224485C>T , CM000664.1:g.21224485C>T | GRCh37 |
| NC_000002.10:g.21077990C>T | NCBI36 |
| NG_011793.1:g.47461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.*117G>A MANE Select | ENSP00000233242.1:n.*117G>A | |
| ENST00000616098.4:c.13807G>A | ENSP00000477990.1:n.13807G>A | |
| NM_000384.2:c.*117G>A | NP_000375.2:n.*117G>A | |
| XM_011532809.1:c.5870-2340G>A | XP_011531111.1:n.5870-2340G>A | |
| NM_000384.3:c.*117G>A MANE Select | NP_000375.3:n.*117G>A |