Linked Data
ClinVar Variation Id:
234049
dbSNP Id:
rs373976827
ExAC:
1:17371376 C / T
gnomAD v2:
1-17371376-C-T
gnomAD v3:
1-17044881-C-T
gnomAD v4:
1-17044881-C-T
PubMed:
PMID:25494863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044881C>T , CM000663.2:g.17044881C>T | GRCh38 |
| NC_000001.10:g.17371376C>T , CM000663.1:g.17371376C>T | GRCh37 |
| NC_000001.9:g.17243963C>T | NCBI36 |
| NG_012340.1:g.14290G>A , LRG_316:g.14290G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.-92G>A | ENSP00000481376.2:n.-92G>A | |
| ENST00000491274.6:c.38G>A | ENSP00000480482.2:p.Arg13Gln | |
| ENST00000375499.8:c.80G>A MANE Select | ENSP00000364649.3:p.Arg27Gln | |
| ENST00000375499.7:c.80G>A | ENSP00000364649.3:p.Arg27Gln | |
| ENST00000463045.2:c.-92G>A | ENSP00000481376.1:n.-92G>A | |
| ENST00000466613.2:n.92G>A | ||
| ENST00000485515.5:n.68G>A | ||
| ENST00000491274.5:c.38G>A | ENSP00000480482.1:p.Arg13Gln | |
| NM_003000.2:c.80G>A , LRG_316t1:c.80G>A | NP_002991.2:p.Arg27Gln | |
| NM_003000.3:c.80G>A MANE Select | NP_002991.2:p.Arg27Gln |