Linked Data
ClinVar Variation Id:
280375
dbSNP Id:
rs886041592
gnomAD v3:
15-89329041-G-A
gnomAD v4:
15-89329041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89329041G>A , CM000677.2:g.89329041G>A | GRCh38 |
| NC_000015.9:g.89872272G>A , CM000677.1:g.89872272G>A | GRCh37 |
| NC_000015.8:g.87673276G>A | NCBI36 |
| NG_008218.1:g.10755C>T | |
| NG_008218.2:g.10755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.925C>T | ENSP00000516154.1:p.Arg309Cys | |
| ENST00000268124.11:c.925C>T MANE Select | ENSP00000268124.5:p.Arg309Cys | |
| ENST00000530292.3:c.526C>T | ENSP00000432885.2:p.Arg176Cys | |
| ENST00000635986.2:c.925C>T | ENSP00000490653.2:p.Arg309Cys | |
| ENST00000636774.1:c.925C>T | ENSP00000489799.1:p.Arg309Cys | |
| ENST00000666746.1:c.582C>T | ||
| ENST00000672071.1:n.1123C>T | ||
| ENST00000268124.9:c.925C>T | ENSP00000268124.5:p.Arg309Cys | |
| ENST00000442287.6:c.925C>T | ENSP00000399851.2:p.Arg309Cys | |
| ENST00000631044.2:c.*308C>T | ENSP00000486730.1:n.*308C>T | |
| NM_001126131.1:c.925C>T | NP_001119603.1:p.Arg309Cys | |
| NM_002693.2:c.925C>T | NP_002684.1:p.Arg309Cys | |
| NM_001126131.2:c.925C>T | NP_001119603.1:p.Arg309Cys | |
| NM_002693.3:c.925C>T MANE Select | NP_002684.1:p.Arg309Cys |