Linked Data
ClinVar Variation Id:
500506
dbSNP Id:
rs748357067
ExAC:
1:94578566 C / T
gnomAD v2:
1-94578566-C-T
gnomAD v3:
1-94113010-C-T
gnomAD v4:
1-94113010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94113010C>T , CM000663.2:g.94113010C>T | GRCh38 |
| NC_000001.10:g.94578566C>T , CM000663.1:g.94578566C>T | GRCh37 |
| NC_000001.9:g.94351154C>T | NCBI36 |
| NG_009073.1:g.13140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.123G>A MANE Select | ENSP00000359245.3:p.Trp41Ter | |
| ENST00000649773.1:c.123G>A | ENSP00000496882.1:p.Trp41Ter | |
| ENST00000370225.3:c.123G>A | ENSP00000359245.3:p.Trp41Ter | |
| NM_000350.2:c.123G>A | NP_000341.2:p.Trp41Ter | |
| NM_000350.3:c.123G>A MANE Select | NP_000341.2:p.Trp41Ter |