Linked Data
ClinVar Variation Id:
520959
dbSNP Id:
rs150171524
ExAC:
9:6602147 G / A
gnomAD v2:
9-6602147-G-A
gnomAD v3:
9-6602147-G-A
gnomAD v4:
9-6602147-G-A
COSMIC:
COSM1109552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6602147G>A , CM000671.2:g.6602147G>A | GRCh38 |
| NC_000009.11:g.6602147G>A , CM000671.1:g.6602147G>A | GRCh37 |
| NC_000009.10:g.6592147G>A | NCBI36 |
| NG_016397.1:g.48546C>T , LRG_643:g.48546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1117C>T MANE Select | ENSP00000370737.4:p.Arg373Trp | |
| ENST00000638654.1:c.364C>T | ENSP00000491101.1:p.Arg122Trp | |
| ENST00000639364.1:n.817C>T | ||
| ENST00000639443.1:n.685C>T | ||
| ENST00000639493.1:n.269C>T | ||
| ENST00000639954.1:n.825C>T | ||
| ENST00000640592.1:n.1000C>T | ||
| ENST00000321612.6:c.1117C>T | ENSP00000370737.3:p.Arg373Trp | |
| ENST00000463305.1:n.201C>T | ||
| NM_000170.2:c.1117C>T , LRG_643t1:c.1117C>T | NP_000161.2:p.Arg373Trp | |
| NM_000170.3:c.1117C>T MANE Select | NP_000161.2:p.Arg373Trp |