Linked Data
ClinVar Variation Id:
1581739
ClinVar RCV Id:
RCV002088572
dbSNP Id:
rs370507945
ExAC:
15:80469937 C / T
gnomAD v2:
15-80469937-C-T
gnomAD v3:
15-80177595-C-T
gnomAD v4:
15-80177595-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80177595C>T , CM000677.2:g.80177595C>T | GRCh38 |
| NC_000015.9:g.80469937C>T , CM000677.1:g.80469937C>T | GRCh37 |
| NC_000015.8:g.78256992C>T | NCBI36 |
| NG_012833.1:g.29597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1049+12C>T | ||
| ENST00000561421.6:c.960+12C>T MANE Select | ENSP00000453347.2:n.960+12C>T | |
| ENST00000646551.1:n.2574+12C>T | ||
| ENST00000261755.9:c.960+12C>T | ENSP00000261755.5:n.960+12C>T | |
| ENST00000407106.5:c.960+12C>T | ENSP00000385080.1:n.960+12C>T | |
| ENST00000539156.5:c.750+12C>T | ENSP00000454271.1:n.750+12C>T | |
| ENST00000559217.1:n.177+12C>T | ||
| ENST00000561353.2:c.58+12C>T | ||
| ENST00000561421.5:c.960+12C>T | ENSP00000453347.1:n.960+12C>T | |
| NM_000137.2:c.960+12C>T | NP_000128.1:n.960+12C>T | |
| XM_024449872.1:c.960+12C>T | XP_024305640.1:n.960+12C>T | |
| NM_000137.4:c.960+12C>T MANE Select | NP_000128.1:n.960+12C>T | |
| NM_001374377.1:c.960+12C>T | NP_001361306.1:n.960+12C>T | |
| NM_001374380.1:c.960+12C>T | NP_001361309.1:n.960+12C>T |