Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88627189G>A , CM000664.2:g.88627189G>A | GRCh38 |
| NC_000002.11:g.88926707G>A , CM000664.1:g.88926707G>A | GRCh37 |
| NC_000002.10:g.88707822G>A | NCBI36 |
| NG_016424.1:g.5388C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004836.7:c.86C>T MANE Select | NP_004827.4:p.Ala29Val |
| ENST00000303236.9:c.86C>T MANE Select | ENSP00000307235.3:p.Ala29Val |
| NM_004836.5:c.86C>T | NP_004827.4:p.Ala29Val |
| NM_004836.6:c.86C>T | NP_004827.4:p.Ala29Val |
| ENST00000303236.7:c.86C>T | ENSP00000307235.3:p.Ala29Val |
| ENST00000652099.1:c.84C>T | |
| ENST00000652423.1:c.86C>T | ENSP00000498948.1:p.Ala29Val |
| ENST00000682892.1:c.-145-13336C>T | ENSP00000507214.1:n.-145-13336C>T |
| XM_017005376.2:c.-795C>T | XP_016860865.1:n.-795C>T |
| XR_939749.1:n.295C>T |