Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35381194C>A , CM000684.2:g.35381194C>A | GRCh38 |
| NC_000022.10:g.35777187C>A , CM000684.1:g.35777187C>A | GRCh37 |
| NC_000022.9:g.34107187C>A | NCBI36 |
| NG_023030.1:g.5128C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.21C>A MANE Select | ENSP00000216117.8:p.Asp7Glu | |
| ENST00000481190.2:c.21C>A | ENSP00000503987.1:p.Asp7Glu | |
| ENST00000677931.1:c.21C>A | ENSP00000502849.1:p.Asp7Glu | |
| ENST00000679074.1:c.21C>A | ENSP00000503459.1:p.Asp7Glu | |
| ENST00000216117.8:c.21C>A | ENSP00000216117.8:p.Asp7Glu | |
| ENST00000412893.5:c.21C>A | ENSP00000413316.1:p.Asp7Glu | |
| ENST00000481190.1:n.102C>A | ||
| NM_002133.2:c.21C>A | NP_002124.1:p.Asp7Glu | |
| NM_002133.3:c.21C>A MANE Select | NP_002124.1:p.Asp7Glu |