Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88627212C>T , CM000664.2:g.88627212C>T | GRCh38 |
| NC_000002.11:g.88926730C>T , CM000664.1:g.88926730C>T | GRCh37 |
| NC_000002.10:g.88707845C>T | NCBI36 |
| NG_016424.1:g.5365G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004836.7:c.63G>A MANE Select | NP_004827.4:p.Leu21= |
| ENST00000303236.9:c.63G>A MANE Select | ENSP00000307235.3:p.Leu21= |
| NM_004836.5:c.63G>A | NP_004827.4:p.Leu21= |
| NM_004836.6:c.63G>A | NP_004827.4:p.Leu21= |
| ENST00000303236.7:c.63G>A | ENSP00000307235.3:p.Leu21= |
| ENST00000652099.1:c.61G>A | |
| ENST00000652423.1:c.63G>A | ENSP00000498948.1:p.Leu21= |
| ENST00000682892.1:c.-145-13359G>A | ENSP00000507214.1:n.-145-13359G>A |
| XM_017005376.2:c.-818G>A | XP_016860865.1:n.-818G>A |
| XR_939749.1:n.272G>A |