Linked Data
ClinVar Variation Id:
2946592
ClinVar RCV Id:
RCV003808830
dbSNP Id:
rs765160666
ExAC:
12:102179775 A / T
gnomAD v2:
12-102179775-A-T
gnomAD v4:
12-101785997-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101785997A>T , CM000674.2:g.101785997A>T | GRCh38 |
| NC_000012.11:g.102179775A>T , CM000674.1:g.102179775A>T | GRCh37 |
| NC_000012.10:g.100703906A>T | NCBI36 |
| NG_021243.1:g.49871T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.571+15T>A MANE Select | ENSP00000299314.7:n.571+15T>A | |
| ENST00000299314.11:c.571+15T>A | ENSP00000299314.7:n.571+15T>A | |
| ENST00000549940.5:c.571+15T>A | ENSP00000449150.1:n.571+15T>A | |
| ENST00000550352.1:n.380T>A | ||
| ENST00000552681.1:c.205+15T>A | ENSP00000449217.1:n.205+15T>A | |
| NM_024312.4:c.571+15T>A | NP_077288.2:n.571+15T>A | |
| XM_006719593.2:c.571+15T>A | XP_006719656.1:n.571+15T>A | |
| XM_011538731.1:c.490+15T>A | XP_011537033.1:n.490+15T>A | |
| XM_006719593.3:c.571+15T>A | XP_006719656.1:n.571+15T>A | |
| XM_011538731.2:c.490+15T>A | XP_011537033.1:n.490+15T>A | |
| XM_017019961.1:c.355+15T>A | XP_016875450.1:n.355+15T>A | |
| XM_017019962.2:c.-780+15T>A | XP_016875451.1:n.-780+15T>A | |
| NM_024312.5:c.571+15T>A MANE Select | NP_077288.2:n.571+15T>A |