Linked Data
ClinVar Variation Id:
2782935
ClinVar RCV Id:
RCV003745698
dbSNP Id:
rs781967950
ExAC:
3:53215763 A / G
gnomAD v3:
3-53181747-A-G
gnomAD v4:
3-53181747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53181747A>G , CM000665.2:g.53181747A>G | GRCh38 |
| NC_000003.11:g.53215763A>G , CM000665.1:g.53215763A>G | GRCh37 |
| NC_000003.10:g.53190803A>G | NCBI36 |
| NG_033864.1:g.25541A>G | |
| NG_033864.2:g.30739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697588.1:c.571+15A>G | ENSP00000513355.1:n.571+15A>G | |
| ENST00000330452.8:c.571+15A>G MANE Select | ENSP00000331602.3:n.571+15A>G | |
| ENST00000650739.1:c.571+15A>G | ENSP00000498623.1:n.571+15A>G | |
| ENST00000650940.1:c.571+15A>G | ENSP00000499184.1:n.571+15A>G | |
| ENST00000651505.1:c.203+15A>G | ||
| ENST00000652449.1:c.571+15A>G | ENSP00000498400.1:n.571+15A>G | |
| ENST00000654719.1:c.571+15A>G | ENSP00000499558.1:n.571+15A>G | |
| ENST00000330452.7:c.571+15A>G | ENSP00000331602.3:n.571+15A>G | |
| ENST00000394729.6:c.571+15A>G | ENSP00000378217.2:n.571+15A>G | |
| ENST00000464818.1:c.571+15A>G | ENSP00000419629.1:n.571+15A>G | |
| NM_001316327.1:c.571+15A>G | NP_001303256.1:n.571+15A>G | |
| NM_006254.3:c.571+15A>G | NP_006245.2:n.571+15A>G | |
| NM_212539.1:c.571+15A>G | NP_997704.1:n.571+15A>G | |
| XM_006713257.2:c.619+15A>G | XP_006713320.1:n.619+15A>G | |
| XM_006713259.2:c.571+15A>G | XP_006713322.1:n.571+15A>G | |
| XR_940474.1:n.590+15A>G | ||
| NM_001354676.1:c.628+15A>G | NP_001341605.1:n.628+15A>G | |
| NM_001354678.1:c.619+15A>G | NP_001341607.1:n.619+15A>G | |
| NM_001354679.1:c.571+15A>G | NP_001341608.1:n.571+15A>G | |
| NM_001354680.1:c.571+15A>G | NP_001341609.1:n.571+15A>G | |
| XR_002959550.1:n.643+15A>G | ||
| NM_006254.4:c.571+15A>G MANE Select | NP_006245.2:n.571+15A>G | |
| NM_001316327.2:c.571+15A>G | NP_001303256.1:n.571+15A>G | |
| NM_001354676.2:c.628+15A>G | NP_001341605.1:n.628+15A>G | |
| NM_001354678.2:c.619+15A>G | NP_001341607.1:n.619+15A>G | |
| NM_001354679.2:c.571+15A>G | NP_001341608.1:n.571+15A>G | |
| NM_001354680.2:c.571+15A>G | NP_001341609.1:n.571+15A>G | |
| NM_212539.2:c.571+15A>G | NP_997704.1:n.571+15A>G |