Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050654G>T , CM000664.2:g.189050654G>T | GRCh38 |
| NC_000002.11:g.189915380G>T , CM000664.1:g.189915380G>T | GRCh37 |
| NC_000002.10:g.189623625G>T | NCBI36 |
| NG_011799.1:g.134226C>A | |
| NG_011799.2:g.134226C>A | |
| NG_011799.3:g.179648C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2954C>A MANE Select | ENSP00000364000.3:p.Pro985Gln | |
| ENST00000374866.7:c.2954C>A | ENSP00000364000.3:p.Pro985Gln | |
| ENST00000618828.1:c.1793C>A | ENSP00000482184.1:p.Pro598Gln | |
| NM_000393.3:c.2954C>A | NP_000384.2:p.Pro985Gln | |
| XM_011510573.1:c.2816C>A | XP_011508875.1:p.Pro939Gln | |
| NM_000393.4:c.2954C>A | NP_000384.2:p.Pro985Gln | |
| XM_011510573.3:c.2816C>A | XP_011508875.1:p.Pro939Gln | |
| NM_000393.5:c.2954C>A MANE Select | NP_000384.2:p.Pro985Gln |