Linked Data
ClinVar Variation Id:
4188
dbSNP Id:
rs74315309
gnomAD v2:
1-236645755-G-A
gnomAD v4:
1-236482455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482455G>A , CM000663.2:g.236482455G>A | GRCh38 |
| NC_000001.10:g.236645755G>A , CM000663.1:g.236645755G>A | GRCh37 |
| NC_000001.9:g.234712378G>A | NCBI36 |
| NG_011566.1:g.93076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.454G>A MANE Select | ENSP00000335076.4:p.Glu152Lys | |
| ENST00000359362.6:c.424G>A | ENSP00000352320.4:p.Glu142Lys | |
| ENST00000637660.1:c.388G>A | ENSP00000490347.1:p.Glu130Lys | |
| ENST00000642595.1:c.236-9282G>A | ENSP00000494458.1:n.236-9282G>A | |
| ENST00000334232.8:c.454G>A | ENSP00000335076.4:p.Glu152Lys | |
| ENST00000359362.5:c.424G>A | ENSP00000352320.4:p.Glu142Lys | |
| NM_080738.3:c.424G>A | NP_542776.1:p.Glu142Lys | |
| NM_145861.2:c.454G>A | NP_665860.2:p.Glu152Lys | |
| NM_080738.4:c.424G>A | NP_542776.1:p.Glu142Lys | |
| NM_145861.4:c.454G>A MANE Select | NP_665860.2:p.Glu152Lys |