Linked Data
gnomAD v4:
15-22786784-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786784G>A , CM000677.2:g.22786784G>A | GRCh38 |
| NC_000015.9:g.23086284C>T , CM000677.1:g.23086284C>T | GRCh37 |
| NC_000015.8:g.20637725C>T | NCBI36 |
| NG_009056.1:g.5560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.128G>A MANE Select | ENSP00000337452.4:p.Gly43Glu | |
| ENST00000337435.8:c.128G>A | ENSP00000337452.4:p.Gly43Glu | |
| ENST00000437912.6:c.-48+12471G>A | ENSP00000393962.2:n.-48+12471G>A | |
| ENST00000559448.5:c.18G>A | ||
| ENST00000560069.5:n.31+536G>A | ||
| ENST00000560105.1:n.27G>A | ||
| ENST00000561183.5:c.-48+536G>A | ENSP00000453722.1:n.-48+536G>A | |
| NM_001142275.1:c.-48+536G>A | NP_001135747.1:n.-48+536G>A | |
| NM_144599.4:c.128G>A | NP_653200.2:p.Gly43Glu | |
| NM_144599.5:c.128G>A MANE Select | NP_653200.2:p.Gly43Glu |