Linked Data
ClinVar Variation Id:
302363
ClinVar RCV Id:
RCV000319662
dbSNP Id:
rs886047655
gnomAD v2:
11-110167417-G-T
gnomAD v3:
11-110296692-G-T
gnomAD v4:
11-110296692-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110296692G>T , CM000673.2:g.110296692G>T | GRCh38 |
| NC_000011.9:g.110167417G>T , CM000673.1:g.110167417G>T | GRCh37 |
| NC_000011.8:g.109672627G>T | NCBI36 |
| NG_023044.1:g.5021C>A | |
| NG_023044.2:g.5021C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343115.8:c.-290C>A | ENSP00000342830.4:n.-290C>A | |
| ENST00000405097.5:c.-290C>A | ENSP00000384136.1:n.-290C>A | |
| ENST00000528498.5:c.-290C>A | ENSP00000432112.1:n.-290C>A | |
| ENST00000528900.5:c.-384C>A | ENSP00000433580.1:n.-384C>A | |
| ENST00000530301.5:c.-290C>A | ENSP00000436277.1:n.-290C>A | |
| ENST00000530749.5:c.-290C>A | ENSP00000437301.1:n.-290C>A | |
| ENST00000544551.5:c.-327C>A | ENSP00000445826.1:n.-327C>A | |
| NM_001260492.1:c.-290C>A | NP_001247421.1:n.-290C>A | |
| NM_001260493.1:c.-290C>A | NP_001247422.1:n.-290C>A | |
| NM_001260494.1:c.-327C>A | NP_001247423.1:n.-327C>A | |
| NM_001260495.1:c.-384C>A | NP_001247424.1:n.-384C>A | |
| NM_001260496.1:c.-290C>A | NP_001247425.1:n.-290C>A | |
| NM_002906.3:c.-290C>A | NP_002897.1:n.-290C>A |