Linked Data
ClinVar Variation Id:
2720988
ClinVar RCV Id:
RCV003554278
dbSNP Id:
rs139139482
ExAC:
17:39768472 G / A
gnomAD v2:
17-39768472-G-A
gnomAD v3:
17-41612220-G-A
gnomAD v4:
17-41612220-G-A
COSMIC:
COSM1256078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612220G>A , CM000679.2:g.41612220G>A | GRCh38 |
| NC_000017.10:g.39768472G>A , CM000679.1:g.39768472G>A | GRCh37 |
| NC_000017.9:g.37021998G>A | NCBI36 |
| NG_008301.1:g.5608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.469C>T MANE Select | ENSP00000301653.3:p.Arg157Trp | |
| ENST00000301653.8:c.469C>T | ENSP00000301653.3:p.Arg157Trp | |
| ENST00000588319.1:n.546C>T | ||
| ENST00000593067.1:c.-246C>T | ENSP00000467124.1:n.-246C>T | |
| NM_005557.3:c.469C>T | NP_005548.2:p.Arg157Trp | |
| NM_005557.4:c.469C>T MANE Select | NP_005548.2:p.Arg157Trp |