Linked Data
ClinVar Variation Id:
3002046
ClinVar RCV Id:
RCV003863109
dbSNP Id:
rs756050422
ExAC:
8:38006142 G / A
gnomAD v2:
8-38006142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148624G>A , CM000670.2:g.38148624G>A | GRCh38 |
| NC_000008.10:g.38006142G>A , CM000670.1:g.38006142G>A | GRCh37 |
| NC_000008.9:g.38125299G>A | NCBI36 |
| NG_011827.1:g.7459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.178+17C>T MANE Select | ENSP00000276449.3:n.178+17C>T | |
| ENST00000276449.8:c.178+17C>T | ENSP00000276449.3:n.178+17C>T | |
| ENST00000520114.1:n.369C>T | ||
| ENST00000521236.1:c.-101+17C>T | ENSP00000430030.1:n.-101+17C>T | |
| ENST00000522050.1:c.114+17C>T | ||
| NM_000349.2:c.178+17C>T | NP_000340.2:n.178+17C>T | |
| XM_006716392.1:c.178+17C>T | XP_006716455.1:n.178+17C>T | |
| NM_000349.3:c.178+17C>T MANE Select | NP_000340.2:n.178+17C>T |