Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492706A>G , CM000674.2:g.52492706A>G | GRCh38 |
| NC_000012.11:g.52886490A>G , CM000674.1:g.52886490A>G | GRCh37 |
| NC_000012.10:g.51172757A>G | NCBI36 |
| NG_008298.1:g.5692T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.483T>C MANE Select | ENSP00000369317.3:p.Ala161= | |
| ENST00000330722.6:c.483T>C | ENSP00000369317.3:p.Ala161= | |
| ENST00000549898.5:n.4T>C | ||
| NM_005554.3:c.483T>C | NP_005545.1:p.Ala161= | |
| NM_005554.4:c.483T>C MANE Select | NP_005545.1:p.Ala161= |