Linked Data
ClinVar Variation Id:
829485
ClinVar RCV Id:
RCV001029408
dbSNP Id:
rs2235035
gnomAD v2:
7-87179086-G-A
gnomAD v3:
7-87549770-G-A
gnomAD v4:
7-87549770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87549770G>A , CM000669.2:g.87549770G>A | GRCh38 |
| NC_000007.13:g.87179086G>A , CM000669.1:g.87179086G>A | GRCh37 |
| NC_000007.12:g.87017022G>A | NCBI36 |
| NG_011513.1:g.168479C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.1554+81C>T | ENSP00000265724.3:n.1554+81C>T | |
| ENST00000622132.5:c.1554+81C>T MANE Select | ENSP00000478255.1:n.1554+81C>T | |
| ENST00000265724.7:c.1554+81C>T | ENSP00000265724.3:n.1554+81C>T | |
| ENST00000482527.1:n.308+81C>T | ||
| ENST00000543898.5:c.1362+81C>T | ENSP00000444095.1:n.1362+81C>T | |
| ENST00000622132.4:c.1554+81C>T | ENSP00000478255.1:n.1554+81C>T | |
| NM_000927.4:c.1554+81C>T | NP_000918.2:n.1554+81C>T | |
| NM_001348944.1:c.1554+81C>T | NP_001335873.1:n.1554+81C>T | |
| NM_001348945.1:c.1764+81C>T | NP_001335874.1:n.1764+81C>T | |
| NM_001348946.1:c.1554+81C>T | NP_001335875.1:n.1554+81C>T | |
| NM_001348946.2:c.1554+81C>T MANE Select | NP_001335875.1:n.1554+81C>T | |
| NM_000927.5:c.1554+81C>T | NP_000918.2:n.1554+81C>T | |
| NM_001348944.2:c.1554+81C>T | NP_001335873.1:n.1554+81C>T | |
| NM_001348945.2:c.1764+81C>T | NP_001335874.1:n.1764+81C>T |