Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580880C>T , CM000664.2:g.31580880C>T | GRCh38 |
| NC_000002.11:g.31805949C>T , CM000664.1:g.31805949C>T | GRCh37 |
| NC_000002.10:g.31659453C>T | NCBI36 |
| NG_008365.1:g.5092G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000348.4:c.21G>A MANE Select | NP_000339.2:p.Gln7= |
| ENST00000622030.2:c.21G>A MANE Select | ENSP00000477587.1:p.Gln7= |
| NM_000348.3:c.21G>A | NP_000339.2:p.Gln7= |
| ENST00000622030.1:c.21G>A | ENSP00000477587.1:p.Gln7= |
| XM_011533068.1:c.21G>A | XP_011531370.1:p.Gln7= |
| XM_011533070.1:c.27-47114G>A | XP_011531372.1:n.27-47114G>A |
| XM_011533071.1:c.27-47114G>A | XP_011531373.1:n.27-47114G>A |
| XM_011533072.1:c.27-47114G>A | XP_011531374.1:n.27-47114G>A |
| XM_011533072.2:c.27-47114G>A | XP_011531374.1:n.27-47114G>A |