Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131884939C>A , CM000668.2:g.131884939C>A | GRCh38 |
| NC_000006.11:g.132206079C>A , CM000668.1:g.132206079C>A | GRCh37 |
| NC_000006.10:g.132247772C>A | NCBI36 |
| NG_008206.1:g.81924C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006208.3:c.2320C>A MANE Select | NP_006199.2:p.Arg774Ser |
| ENST00000647893.1:c.2320C>A MANE Select | ENSP00000498074.1:p.Arg774Ser |
| NM_006208.2:c.2320C>A | NP_006199.2:p.Arg774Ser |
| ENST00000360971.6:c.2320C>A | ENSP00000354238.2:p.Arg774Ser |
| ENST00000513998.5:c.*1157C>A | ENSP00000422424.1:n.*1157C>A |
| ENST00000684674.1:n.751C>A | |
| XM_011535896.1:c.1210C>A | XP_011534198.1:p.Arg404Ser |