Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67744788C>T , CM000666.2:g.67744788C>T | GRCh38 |
| NC_000004.11:g.68610506C>T , CM000666.1:g.68610506C>T | GRCh37 |
| NC_000004.10:g.68293101C>T | NCBI36 |
| NG_009293.1:g.16299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.523-1G>A MANE Select | ENSP00000226413.5:n.523-1G>A | |
| ENST00000226413.4:c.523-1G>A | ENSP00000226413.4:n.523-1G>A | |
| ENST00000420975.2:c.523-129G>A | ENSP00000397561.2:n.523-129G>A | |
| NM_000406.2:c.523-1G>A | NP_000397.1:n.523-1G>A | |
| NM_001012763.1:c.523-129G>A | NP_001012781.1:n.523-129G>A | |
| NM_000406.3:c.523-1G>A MANE Select | NP_000397.1:n.523-1G>A | |
| NM_001012763.2:c.523-129G>A | NP_001012781.1:n.523-129G>A |