Linked Data
ClinVar Variation Id:
44638
dbSNP Id:
rs74983220
ExAC:
11:110104062 G / A
gnomAD v2:
11-110104062-G-A
gnomAD v3:
11-110233337-G-A
gnomAD v4:
11-110233337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110233337G>A , CM000673.2:g.110233337G>A | GRCh38 |
| NC_000011.9:g.110104062G>A , CM000673.1:g.110104062G>A | GRCh37 |
| NC_000011.8:g.109609272G>A | NCBI36 |
| NG_023044.1:g.68376C>T | |
| NG_023044.2:g.68376C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645312.1:c.130C>T | ||
| ENST00000645495.2:c.1487C>T MANE Select | ENSP00000496503.2:p.Ala496Val | |
| ENST00000645527.1:c.1487C>T | ENSP00000496121.1:p.Ala496Val | |
| ENST00000646663.1:c.1487C>T | ENSP00000494693.1:p.Ala496Val | |
| ENST00000647231.1:c.1487C>T | ENSP00000496414.1:p.Ala496Val | |
| ENST00000343115.8:c.1487C>T | ENSP00000342830.4:p.Ala496Val | |
| ENST00000405097.5:c.1487C>T | ENSP00000384136.1:p.Ala496Val | |
| ENST00000527537.5:n.716C>T | ||
| ENST00000528498.5:c.1487C>T | ENSP00000432112.1:p.Ala496Val | |
| ENST00000528900.5:c.446C>T | ENSP00000433580.1:p.Ala149Val | |
| ENST00000530085.2:n.497C>T | ||
| ENST00000530131.5:c.*957C>T | ENSP00000432829.1:n.*957C>T | |
| ENST00000530301.5:c.405-1333C>T | ENSP00000436277.1:n.405-1333C>T | |
| ENST00000530749.5:c.1487C>T | ENSP00000437301.1:p.Ala496Val | |
| ENST00000532461.5:n.602C>T | ||
| ENST00000533961.1:n.187C>T | ||
| ENST00000544551.5:c.1079C>T | ENSP00000445826.1:p.Ala360Val | |
| NM_001260492.1:c.1487C>T | NP_001247421.1:p.Ala496Val | |
| NM_001260493.1:c.1487C>T | NP_001247422.1:p.Ala496Val | |
| NM_001260494.1:c.1079C>T | NP_001247423.1:p.Ala360Val | |
| NM_001260495.1:c.446C>T | NP_001247424.1:p.Ala149Val | |
| NM_001260496.1:c.405-1333C>T | NP_001247425.1:n.405-1333C>T | |
| NM_002906.3:c.1487C>T | NP_002897.1:p.Ala496Val | |
| NM_001260492.2:c.1487C>T | NP_001247421.1:p.Ala496Val | |
| NM_002906.4:c.1487C>T MANE Select | NP_002897.1:p.Ala496Val | |
| NM_001260493.2:c.1487C>T | NP_001247422.1:p.Ala496Val | |
| NM_001260494.2:c.1079C>T | NP_001247423.1:p.Ala360Val | |
| NM_001260495.2:c.446C>T | NP_001247424.1:p.Ala149Val | |
| NM_001260496.2:c.405-1333C>T | NP_001247425.1:n.405-1333C>T |