Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97020904G>A , CM000669.2:g.97020904G>A | GRCh38 |
| NC_000007.13:g.96650216G>A , CM000669.1:g.96650216G>A | GRCh37 |
| NC_000007.12:g.96488152G>A | NCBI36 |
| NG_009220.1:g.8928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648378.1:c.702C>T MANE Select | ENSP00000498116.1:p.Ser234= | |
| ENST00000222598.4:c.702C>T | ENSP00000222598.4:p.Ser234= | |
| ENST00000493764.1:n.824C>T | ||
| NM_005221.5:c.702C>T | NP_005212.1:p.Ser234= | |
| XM_005250185.2:c.318C>T | XP_005250242.1:p.Ser106= | |
| XM_011515860.1:c.*173C>T | XP_011514162.1:n.*173C>T | |
| NM_005221.6:c.702C>T MANE Select | NP_005212.1:p.Ser234= | |
| XM_005250185.3:c.318C>T | XP_005250242.1:p.Ser106= | |
| XM_017011803.1:c.318C>T | XP_016867292.1:p.Ser106= |