Linked Data
ClinVar Variation Id:
2956619
ClinVar RCV Id:
RCV003816330
dbSNP Id:
rs778048512
ExAC:
1:169454785 C / T
gnomAD v2:
1-169454785-C-T
gnomAD v4:
1-169485547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485547C>T , CM000663.2:g.169485547C>T | GRCh38 |
| NC_000001.10:g.169454785C>T , CM000663.1:g.169454785C>T | GRCh37 |
| NC_000001.9:g.167721409C>T | NCBI36 |
| NG_008255.1:g.5424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.204+16G>A MANE Select | ENSP00000236137.5:n.204+16G>A | |
| ENST00000646596.1:c.204+16G>A | ENSP00000494404.1:n.204+16G>A | |
| ENST00000236137.9:c.204+16G>A | ENSP00000236137.5:n.204+16G>A | |
| ENST00000367804.4:c.204+16G>A | ENSP00000356778.3:n.204+16G>A | |
| NM_006996.2:c.204+16G>A | NP_008927.1:n.204+16G>A | |
| XM_011509076.1:c.12+506G>A | XP_011507378.1:n.12+506G>A | |
| XM_011509077.1:c.204+16G>A | XP_011507379.1:n.204+16G>A | |
| NM_001319667.1:c.204+16G>A | NP_001306596.1:n.204+16G>A | |
| NM_006996.3:c.204+16G>A MANE Select | NP_008927.1:n.204+16G>A |