Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.97020906T>G , CM000669.2:g.97020906T>G | GRCh38 |
| NC_000007.13:g.96650218T>G , CM000669.1:g.96650218T>G | GRCh37 |
| NC_000007.12:g.96488154T>G | NCBI36 |
| NG_009220.1:g.8926A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648378.1:c.700A>C MANE Select | ENSP00000498116.1:p.Ser234Arg | |
| ENST00000222598.4:c.700A>C | ENSP00000222598.4:p.Ser234Arg | |
| ENST00000493764.1:n.822A>C | ||
| NM_005221.5:c.700A>C | NP_005212.1:p.Ser234Arg | |
| XM_005250185.2:c.316A>C | XP_005250242.1:p.Ser106Arg | |
| XM_011515860.1:c.*171A>C | XP_011514162.1:n.*171A>C | |
| NM_005221.6:c.700A>C MANE Select | NP_005212.1:p.Ser234Arg | |
| XM_005250185.3:c.316A>C | XP_005250242.1:p.Ser106Arg | |
| XM_017011803.1:c.316A>C | XP_016867292.1:p.Ser106Arg |