Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168876155G>A , CM000664.2:g.168876155G>A | GRCh38 |
| NC_000002.11:g.169732665G>A , CM000664.1:g.169732665G>A | GRCh37 |
| NC_000002.10:g.169440911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282074.7:c.368C>T MANE Select | ENSP00000282074.2:p.Ala123Val | |
| ENST00000282074.6:c.368C>T | ENSP00000282074.2:p.Ala123Val | |
| ENST00000479309.6:n.237C>T | ||
| NM_020675.3:c.368C>T | NP_065726.1:p.Ala123Val | |
| XM_011511516.1:c.368C>T | XP_011509818.1:p.Ala123Val | |
| XM_011511516.2:c.368C>T | XP_011509818.1:p.Ala123Val | |
| NM_020675.4:c.368C>T MANE Select | NP_065726.1:p.Ala123Val |