Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957021G= , CM000685.2:g.154957021G= | GRCh38 |
| NC_000023.10:g.154185296G= , CM000685.1:g.154185296G= | GRCh37 |
| NC_000023.9:g.153838490G= | NCBI36 |
| NG_011403.1:g.70703C= | |
| NG_011403.2:g.70703C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1688C= MANE Select | ENSP00000353393.4:p.Ala563= | |
| ENST00000647125.1:c.*1564C= | ENSP00000496062.1:n.*1564C= | |
| ENST00000360256.8:c.1688C= | ENSP00000353393.4:p.Ala563= | |
| NM_000132.3:c.1688C= | NP_000123.1:p.Ala563= | |
| XM_011531126.1:c.1583C= | XP_011529428.1:p.Ala528= | |
| NM_000132.4:c.1688C= MANE Select | NP_000123.1:p.Ala563= |