Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151397323T>A , CM000685.2:g.151397323T>A | GRCh38 |
| NC_000023.10:g.150565795T>A , CM000685.1:g.150565795T>A | GRCh37 |
| NC_000023.9:g.150316453T>A | NCBI36 |
| NG_016761.1:g.5139T>A , LRG_860:g.5139T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330374.7:c.15T>A MANE Select | ENSP00000333255.6:p.Asp5Glu | |
| ENST00000330374.6:c.15T>A | ENSP00000333255.6:p.Asp5Glu | |
| ENST00000370361.5:c.218+266T>A | ENSP00000359386.1:n.218+266T>A | |
| ENST00000477649.1:n.133+676T>A | ||
| NM_001017980.3:c.15T>A , LRG_860t1:c.15T>A | NP_001017980.1:p.Asp5Glu | |
| XM_011531125.1:c.218+266T>A | XP_011529427.1:n.218+266T>A | |
| NM_001363810.1:c.218+266T>A | NP_001350739.1:n.218+266T>A | |
| NM_001017980.4:c.15T>A MANE Select | NP_001017980.1:p.Asp5Glu |