Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152354993C>T , CM000663.2:g.152354993C>T | GRCh38 |
| NC_000001.10:g.152327469C>T , CM000663.1:g.152327469C>T | GRCh37 |
| NC_000001.9:g.150594093C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001014342.3:c.2793G>A MANE Select | NP_001014364.1:p.Gln931= |
| ENST00000388718.5:c.2793G>A MANE Select | ENSP00000373370.4:p.Gln931= |
| NM_001014342.2:c.2793G>A | NP_001014364.1:p.Gln931= |
| NR_103778.1:n.1407-8994C>T | |
| NR_103779.1:n.152-8994C>T | |
| XM_011509531.1:c.2337G>A | XP_011507833.1:p.Gln779= |
| XM_011509531.2:c.2337G>A | XP_011507833.1:p.Gln779= |