Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31383002G>A , CM000664.2:g.31383002G>A | GRCh38 |
| NC_000002.11:g.31605868G>A , CM000664.1:g.31605868G>A | GRCh37 |
| NC_000002.10:g.31459372G>A | NCBI36 |
| NG_008871.1:g.36744C>T | |
| NG_008871.2:g.36744C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000379.4:c.1037C>T MANE Select | NP_000370.2:p.Ala346Val |
| ENST00000379416.4:c.1037C>T MANE Select | ENSP00000368727.3:p.Ala346Val |
| NM_000379.3:c.1037C>T | NP_000370.2:p.Ala346Val |
| ENST00000379416.3:c.1037C>T | ENSP00000368727.3:p.Ala346Val |
| ENST00000491727.5:n.580C>T | |
| XM_011533095.1:c.1037C>T | XP_011531397.1:p.Ala346Val |
| XM_011533095.2:c.1037C>T | XP_011531397.1:p.Ala346Val |
| XM_011533096.1:c.1037C>T | XP_011531398.1:p.Ala346Val |
| XM_011533096.2:c.1037C>T | XP_011531398.1:p.Ala346Val |