Linked Data
ClinVar Variation Id:
3038842
ClinVar RCV Id:
RCV003922240
dbSNP Id:
rs188378669
ExAC:
4:74607285 G / T
gnomAD v2:
4-74607285-G-T
gnomAD v3:
4-73741568-G-T
gnomAD v4:
4-73741568-G-T
COSMIC:
COSM1057468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73741568G>T , CM000666.2:g.73741568G>T | GRCh38 |
| NC_000004.11:g.74607285G>T , CM000666.1:g.74607285G>T | GRCh37 |
| NC_000004.10:g.74826149G>T | NCBI36 |
| NG_029889.1:g.6063G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696131.1:c.*295G>T | ENSP00000512424.1:n.*295G>T | |
| ENST00000696132.1:c.*49G>T | ENSP00000512425.1:n.*49G>T | |
| ENST00000307407.8:c.91G>T MANE Select | ENSP00000306512.3:p.Glu31Ter | |
| ENST00000307407.7:c.91G>T | ENSP00000306512.3:p.Glu31Ter | |
| ENST00000401931.1:c.91G>T | ENSP00000385908.1:p.Glu31Ter | |
| ENST00000483500.1:n.181G>T | ||
| NM_000584.3:c.91G>T | NP_000575.1:p.Glu31Ter | |
| NM_001354840.1:c.91G>T | NP_001341769.1:p.Glu31Ter | |
| NM_000584.4:c.91G>T MANE Select | NP_000575.1:p.Glu31Ter | |
| NM_001354840.2:c.91G>T | NP_001341769.1:p.Glu31Ter | |
| NM_001354840.3:c.91G>T | NP_001341769.1:p.Glu31Ter |