Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740440C= , CM000666.2:g.67740440C= | GRCh38 |
| NC_000004.11:g.68606158C= , CM000666.1:g.68606158C= | GRCh37 |
| NC_000004.10:g.68288753C= | NCBI36 |
| NG_009293.1:g.20647G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*40G= MANE Select | ENSP00000226413.5:n.*40G= | |
| ENST00000226413.4:c.*40G= | ENSP00000226413.4:n.*40G= | |
| NM_000406.2:c.*40G= | NP_000397.1:n.*40G= | |
| NM_001012763.1:c.*149G= | NP_001012781.1:n.*149G= | |
| NM_000406.3:c.*40G= MANE Select | NP_000397.1:n.*40G= | |
| NM_001012763.2:c.*149G= | NP_001012781.1:n.*149G= |