Linked Data
ClinVar Variation Id:
473077
ClinVar RCV Id:
RCV000549383
dbSNP Id:
rs954823206
gnomAD v2:
1-236645718-G-A
gnomAD v3:
1-236482418-G-A
gnomAD v4:
1-236482418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482418G>A , CM000663.2:g.236482418G>A | GRCh38 |
| NC_000001.10:g.236645718G>A , CM000663.1:g.236645718G>A | GRCh37 |
| NC_000001.9:g.234712341G>A | NCBI36 |
| NG_011566.1:g.93039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.417G>A MANE Select | ENSP00000335076.4:p.Trp139Ter | |
| ENST00000359362.6:c.387G>A | ENSP00000352320.4:p.Trp129Ter | |
| ENST00000637660.1:c.351G>A | ENSP00000490347.1:p.Trp117Ter | |
| ENST00000642595.1:c.236-9319G>A | ENSP00000494458.1:n.236-9319G>A | |
| ENST00000334232.8:c.417G>A | ENSP00000335076.4:p.Trp139Ter | |
| ENST00000359362.5:c.387G>A | ENSP00000352320.4:p.Trp129Ter | |
| NM_080738.3:c.387G>A | NP_542776.1:p.Trp129Ter | |
| NM_145861.2:c.417G>A | NP_665860.2:p.Trp139Ter | |
| NM_080738.4:c.387G>A | NP_542776.1:p.Trp129Ter | |
| NM_145861.4:c.417G>A MANE Select | NP_665860.2:p.Trp139Ter |