Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580962C>A , CM000664.2:g.31580962C>A | GRCh38 |
| NC_000002.11:g.31806031C>A , CM000664.1:g.31806031C>A | GRCh37 |
| NC_000002.10:g.31659535C>A | NCBI36 |
| NG_008365.1:g.5010G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000348.3:c.-62G>T | NP_000339.2:n.-62G>T |
| ENST00000622030.1:c.-62G>T | ENSP00000477587.1:n.-62G>T |
| XM_011533068.1:c.-62G>T | XP_011531370.1:n.-62G>T |
| XM_011533070.1:c.27-47196G>T | XP_011531372.1:n.27-47196G>T |
| XM_011533071.1:c.27-47196G>T | XP_011531373.1:n.27-47196G>T |
| XM_011533072.1:c.27-47196G>T | XP_011531374.1:n.27-47196G>T |
| XM_011533072.2:c.27-47196G>T | XP_011531374.1:n.27-47196G>T |