Linked Data
ClinVar Variation Id:
774611
dbSNP Id:
rs17283799
ExAC:
3:184922197 G / T
gnomAD v2:
3-184922197-G-T
gnomAD v3:
3-185204409-G-T
gnomAD v4:
3-185204409-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185204409G>T , CM000665.2:g.185204409G>T | GRCh38 |
| NC_000003.11:g.184922197G>T , CM000665.1:g.184922197G>T | GRCh37 |
| NC_000003.10:g.186404891G>T | NCBI36 |
| NG_015999.1:g.54690C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.910+7C>A MANE Select | ENSP00000231887.3:n.910+7C>A | |
| ENST00000231887.7:c.910+7C>A | ENSP00000231887.3:n.910+7C>A | |
| ENST00000456310.5:c.622+7C>A | ENSP00000387746.1:n.622+7C>A | |
| NM_001166415.1:c.622+7C>A | NP_001159887.1:n.622+7C>A | |
| NM_001966.3:c.910+7C>A | NP_001957.2:n.910+7C>A | |
| XM_006713525.1:c.286+7C>A | XP_006713588.1:n.286+7C>A | |
| XM_011512517.1:c.622+7C>A | XP_011510819.1:n.622+7C>A | |
| NM_001966.4:c.910+7C>A MANE Select | NP_001957.2:n.910+7C>A | |
| NM_001166415.2:c.622+7C>A | NP_001159887.1:n.622+7C>A |