Linked Data
ClinVar Variation Id:
1216316
ClinVar RCV Id:
RCV001580945
dbSNP Id:
rs144125045
gnomAD v2:
8-38006046-G-A
gnomAD v3:
8-38148528-G-A
gnomAD v4:
8-38148528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148528G>A , CM000670.2:g.38148528G>A | GRCh38 |
| NC_000008.10:g.38006046G>A , CM000670.1:g.38006046G>A | GRCh37 |
| NC_000008.9:g.38125203G>A | NCBI36 |
| NG_011827.1:g.7555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.178+113C>T MANE Select | ENSP00000276449.3:n.178+113C>T | |
| ENST00000276449.8:c.178+113C>T | ENSP00000276449.3:n.178+113C>T | |
| ENST00000520114.1:n.465C>T | ||
| ENST00000521236.1:c.-101+113C>T | ENSP00000430030.1:n.-101+113C>T | |
| ENST00000522050.1:c.114+113C>T | ||
| NM_000349.2:c.178+113C>T | NP_000340.2:n.178+113C>T | |
| XM_006716392.1:c.178+113C>T | XP_006716455.1:n.178+113C>T | |
| NM_000349.3:c.178+113C>T MANE Select | NP_000340.2:n.178+113C>T |