Linked Data
ClinVar Variation Id:
225524
dbSNP Id:
rs140316223
gnomAD v2:
10-96322486-T-A
gnomAD v4:
10-94562729-T-A
PubMed:
PMID:26216346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94562729T>A , CM000672.2:g.94562729T>A | GRCh38 |
| NC_000010.10:g.96322486T>A , CM000672.1:g.96322486T>A | GRCh37 |
| NC_000010.9:g.96312476T>A | NCBI36 |
| NG_047057.1:g.21963T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371332.9:c.370+2T>A | ENSP00000360383.6:n.370+2T>A | |
| ENST00000394036.6:c.370+2T>A | ENSP00000377601.2:n.370+2T>A | |
| ENST00000394045.6:c.370+2T>A | ENSP00000377609.1:n.370+2T>A | |
| ENST00000419900.6:c.322+2T>A | ENSP00000409945.2:n.322+2T>A | |
| ENST00000475263.2:n.370+2T>A | ||
| ENST00000630929.3:c.414+2T>A | ENSP00000485823.1:n.414+2T>A | |
| ENST00000698650.1:n.339+2T>A | ||
| ENST00000698651.1:n.504+2T>A | ||
| ENST00000698673.1:c.*270+2T>A | ENSP00000513870.1:n.*270+2T>A | |
| ENST00000698675.1:c.370+2T>A | ENSP00000513940.1:n.370+2T>A | |
| ENST00000698799.1:c.370+2T>A | ENSP00000513942.1:n.370+2T>A | |
| ENST00000698800.1:c.370+2T>A | ENSP00000513943.1:n.370+2T>A | |
| ENST00000698830.1:c.370+2T>A | ENSP00000513967.1:n.370+2T>A | |
| ENST00000348459.10:c.370+2T>A MANE Select | ENSP00000239027.7:n.370+2T>A | |
| ENST00000239026.10:c.-3+2T>A | ENSP00000239026.7:n.-3+2T>A | |
| ENST00000348459.9:c.370+2T>A | ENSP00000239027.7:n.370+2T>A | |
| ENST00000371332.8:c.21+2T>A | ENSP00000360383.5:n.21+2T>A | |
| ENST00000394036.5:c.370+2T>A | ENSP00000377601.2:n.370+2T>A | |
| ENST00000394045.5:c.370+2T>A | ENSP00000377609.1:n.370+2T>A | |
| ENST00000419900.5:c.322+2T>A | ENSP00000409945.1:n.322+2T>A | |
| ENST00000462057.2:n.219+2T>A | ||
| NM_001289067.1:c.370+2T>A | NP_001275996.1:n.370+2T>A | |
| NM_001289068.1:c.322+2T>A | NP_001275997.1:n.322+2T>A | |
| NM_001289069.1:c.370+2T>A | NP_001275998.1:n.370+2T>A | |
| NM_001289070.1:c.370+2T>A | NP_001275999.1:n.370+2T>A | |
| NM_001289071.1:c.-3+2T>A | NP_001276000.1:n.-3+2T>A | |
| NM_001289072.1:c.370+2T>A | NP_001276001.1:n.370+2T>A | |
| NM_001289073.1:c.21+2T>A | NP_001276002.1:n.21+2T>A | |
| NM_001289074.1:c.-633+2T>A | NP_001276003.1:n.-633+2T>A | |
| NM_001289075.1:c.-652+2T>A | NP_001276004.1:n.-652+2T>A | |
| NM_018063.4:c.370+2T>A | NP_060533.2:n.370+2T>A | |
| XM_024447968.1:c.370+2T>A | XP_024303736.1:n.370+2T>A | |
| NM_018063.5:c.370+2T>A MANE Select | NP_060533.2:n.370+2T>A | |
| NM_001289068.2:c.322+2T>A | NP_001275997.1:n.322+2T>A | |
| NM_001289069.2:c.370+2T>A | NP_001275998.1:n.370+2T>A | |
| NM_001289071.2:c.-3+2T>A | NP_001276000.1:n.-3+2T>A | |
| NM_001289072.2:c.370+2T>A | NP_001276001.1:n.370+2T>A | |
| NM_001289073.2:c.21+2T>A | NP_001276002.1:n.21+2T>A | |
| NM_001289074.2:c.-633+2T>A | NP_001276003.1:n.-633+2T>A | |
| NM_001289075.2:c.-652+2T>A | NP_001276004.1:n.-652+2T>A | |
| NM_001289067.2:c.370+2T>A | NP_001275996.1:n.370+2T>A | |
| NM_001289070.2:c.370+2T>A | NP_001275999.1:n.370+2T>A |