Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740532G= , CM000666.2:g.67740532G= | GRCh38 |
| NC_000004.11:g.68606250G= , CM000666.1:g.68606250G= | GRCh37 |
| NC_000004.10:g.68288845G= | NCBI36 |
| NG_009293.1:g.20555C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.935C= MANE Select | ENSP00000226413.5:p.Ala312= | |
| ENST00000226413.4:c.935C= | ENSP00000226413.4:p.Ala312= | |
| ENST00000420975.2:c.807C= | ENSP00000397561.2:n.807C= | |
| NM_000406.2:c.935C= | NP_000397.1:p.Ala312= | |
| NM_001012763.1:c.*57C= | NP_001012781.1:n.*57C= | |
| NM_000406.3:c.935C= MANE Select | NP_000397.1:p.Ala312= | |
| NM_001012763.2:c.*57C= | NP_001012781.1:n.*57C= |