Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740508G= , CM000666.2:g.67740508G= | GRCh38 |
| NC_000004.11:g.68606226G= , CM000666.1:g.68606226G= | GRCh37 |
| NC_000004.10:g.68288821G= | NCBI36 |
| NG_009293.1:g.20579C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000406.3:c.959C= MANE Select | NP_000397.1:p.Pro320= |
| ENST00000226413.5:c.959C= MANE Select | ENSP00000226413.5:p.Pro320= |
| NM_000406.2:c.959C= | NP_000397.1:p.Pro320= |
| NM_001012763.1:c.*81C= | NP_001012781.1:n.*81C= |
| NM_001012763.2:c.*81C= | NP_001012781.1:n.*81C= |
| ENST00000226413.4:c.959C= | ENSP00000226413.4:p.Pro320= |
| ENST00000420975.2:c.831C= | ENSP00000397561.2:n.831C= |