Linked Data
ClinVar Variation Id:
851587
dbSNP Id:
rs764238653
ExAC:
1:24131000 C / T
gnomAD v2:
1-24131000-C-T
gnomAD v3:
1-23804510-C-T
gnomAD v4:
1-23804510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23804510C>T , CM000663.2:g.23804510C>T | GRCh38 |
| NC_000001.10:g.24131000C>T , CM000663.1:g.24131000C>T | GRCh37 |
| NC_000001.9:g.24003587C>T | NCBI36 |
| NG_007068.1:g.1295G>A | |
| NG_013061.1:g.25950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.766G>A MANE Select | ENSP00000363614.3:p.Val256Met | |
| ENST00000235958.4:c.336G>A | ||
| ENST00000374487.6:c.*807G>A | ENSP00000363611.2:n.*807G>A | |
| ENST00000374490.7:c.766G>A | ENSP00000363614.3:p.Val256Met | |
| ENST00000436439.6:c.553G>A | ENSP00000389281.2:p.Val185Met | |
| ENST00000509389.5:n.457G>A | ||
| NM_000191.2:c.766G>A | NP_000182.2:p.Val256Met | |
| NM_001166059.1:c.553G>A | NP_001159531.1:p.Val185Met | |
| NM_000191.3:c.766G>A MANE Select | NP_000182.2:p.Val256Met | |
| NM_001166059.2:c.553G>A | NP_001159531.1:p.Val185Met |