Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907945G>A , CM000663.2:g.147907945G>A | GRCh38 |
| NC_000001.10:g.147380072G>A , CM000663.1:g.147380072G>A | GRCh37 |
| NC_000001.9:g.145846696G>A | NCBI36 |
| NG_016242.1:g.10127G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.-11G>A MANE Select | ENSP00000358238.1:n.-11G>A | |
| NM_005267.4:c.-11G>A | NP_005258.2:n.-11G>A | |
| XM_011509416.1:c.-11G>A | XP_011507718.1:n.-11G>A | |
| XM_011509417.1:c.-11G>A | XP_011507719.1:n.-11G>A | |
| XM_011509417.2:c.-11G>A | XP_011507719.1:n.-11G>A | |
| XR_002956281.1:n.905G>A | ||
| NM_005267.5:c.-11G>A MANE Select | NP_005258.2:n.-11G>A |