Linked Data
dbSNP Id:
rs10936797
gnomAD v2:
3-174194243-T-G
gnomAD v3:
3-174476453-T-G
gnomAD v4:
3-174476453-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.174476453T>G , CM000665.2:g.174476453T>G | GRCh38 |
| NC_000003.11:g.174194243T>G , CM000665.1:g.174194243T>G | GRCh37 |
| NC_000003.10:g.175676937T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434257.1:c.-184+35421T>G | ENSP00000409858.1:n.-184+35421T>G | |
| ENST00000481679.5:n.243+17141T>G | ||
| ENST00000482228.5:n.113+37768T>G | ||
| ENST00000489729.5:n.46+35421T>G | ||
| ENST00000491329.5:n.114-37056T>G | ||
| ENST00000495900.5:n.50+35421T>G | ||
| XM_006713560.2:c.-184+35421T>G | XP_006713623.1:n.-184+35421T>G | |
| XM_006713560.3:c.-184+35421T>G | XP_006713623.1:n.-184+35421T>G | |
| XM_017006075.2:c.-247+35421T>G | XP_016861564.1:n.-247+35421T>G | |
| XM_017006077.2:c.-451+35421T>G | XP_016861566.1:n.-451+35421T>G | |
| XM_017006078.2:c.-268+35421T>G | XP_016861567.1:n.-268+35421T>G | |
| XM_017006080.2:c.-115+35421T>G | XP_016861569.1:n.-115+35421T>G | |
| XM_017006082.2:c.-254+35421T>G | XP_016861571.1:n.-254+35421T>G |