Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104957662A>T , CM000676.2:g.104957662A>T | GRCh38 |
| NC_000014.8:g.105423999A>T , CM000676.1:g.105423999A>T | GRCh37 |
| NC_000014.7:g.104495044A>T | NCBI36 |
| NG_054630.1:g.25696T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333244.6:c.66T>A MANE Select | ENSP00000353114.4:p.Arg22= | |
| ENST00000333244.5:c.66T>A | ENSP00000353114.4:p.Arg22= | |
| ENST00000555122.1:n.37T>A | ||
| NM_138420.2:c.66T>A | NP_612429.2:p.Arg22= | |
| XM_005267299.1:c.-235T>A | XP_005267356.1:n.-235T>A | |
| NM_001350929.1:c.-235T>A | NP_001337858.1:n.-235T>A | |
| NM_138420.3:c.66T>A | NP_612429.2:p.Arg22= | |
| XM_024449463.1:c.-235T>A | XP_024305231.1:n.-235T>A | |
| NM_138420.4:c.66T>A MANE Select | NP_612429.2:p.Arg22= | |
| NM_001350929.2:c.-235T>A | NP_001337858.1:n.-235T>A |