Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740508G>T , CM000666.2:g.67740508G>T | GRCh38 |
| NC_000004.11:g.68606226G>T , CM000666.1:g.68606226G>T | GRCh37 |
| NC_000004.10:g.68288821G>T | NCBI36 |
| NG_009293.1:g.20579C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000406.3:c.959C>A MANE Select | NP_000397.1:p.Pro320Gln |
| ENST00000226413.5:c.959C>A MANE Select | ENSP00000226413.5:p.Pro320Gln |
| NM_000406.2:c.959C>A | NP_000397.1:p.Pro320Gln |
| NM_001012763.1:c.*81C>A | NP_001012781.1:n.*81C>A |
| NM_001012763.2:c.*81C>A | NP_001012781.1:n.*81C>A |
| ENST00000226413.4:c.959C>A | ENSP00000226413.4:p.Pro320Gln |
| ENST00000420975.2:c.831C>A | ENSP00000397561.2:n.831C>A |