Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80476425G>T , CM000679.2:g.80476425G>T | GRCh38 |
| NC_000017.10:g.78450225G>T , CM000679.1:g.78450225G>T | GRCh37 |
| NC_000017.9:g.76064820G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306773.5:c.22C>A MANE Select | ENSP00000307549.4:p.Arg8Ser | |
| ENST00000306773.4:c.22C>A | ENSP00000307549.4:p.Arg8Ser | |
| ENST00000575212.1:n.234-707C>A | ||
| NM_002522.3:c.22C>A | NP_002513.2:p.Arg8Ser | |
| NM_002522.4:c.22C>A MANE Select | NP_002513.2:p.Arg8Ser |