Linked Data
ClinVar Variation Id:
291858
ClinVar RCV Id:
RCV000355986
dbSNP Id:
rs190615745
gnomAD v2:
1-113459794-C-T
gnomAD v3:
1-112917172-C-T
gnomAD v4:
1-112917172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.112917172C>T , CM000663.2:g.112917172C>T | GRCh38 |
| NC_000001.10:g.113459794C>T , CM000663.1:g.113459794C>T | GRCh37 |
| NC_000001.9:g.113261317C>T | NCBI36 |
| NG_015880.2:g.43757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369626.8:c.1228+6G>A MANE Select | ENSP00000358640.4:n.1228+6G>A | |
| ENST00000429288.2:c.1228+6G>A | ENSP00000397106.2:n.1228+6G>A | |
| ENST00000443580.6:c.1228+6G>A | ENSP00000399104.2:n.1228+6G>A | |
| ENST00000458229.6:c.1228+6G>A | ENSP00000416167.2:n.1228+6G>A | |
| ENST00000679803.1:c.1228+6G>A | ENSP00000505879.1:n.1228+6G>A | |
| ENST00000679846.1:n.2151G>A | ||
| ENST00000369626.7:c.1228+6G>A | ENSP00000358640.3:n.1228+6G>A | |
| ENST00000458229.5:c.1228+6G>A | ENSP00000416167.1:n.1228+6G>A | |
| ENST00000538576.5:c.1228+6G>A | ENSP00000441065.1:n.1228+6G>A | |
| NM_001166496.1:c.1228+6G>A | NP_001159968.1:n.1228+6G>A | |
| NM_003051.3:c.1228+6G>A | NP_003042.3:n.1228+6G>A | |
| XM_011542026.1:c.1228+6G>A | XP_011540328.1:n.1228+6G>A | |
| XM_011542027.1:c.1228+6G>A | XP_011540329.1:n.1228+6G>A | |
| NM_003051.4:c.1228+6G>A MANE Select | NP_003042.3:n.1228+6G>A | |
| NM_001166496.2:c.1228+6G>A | NP_001159968.1:n.1228+6G>A |