Linked Data
dbSNP Id:
rs756348667
ExAC:
17:61914996 T / C
gnomAD v2:
17-61914996-T-C
gnomAD v4:
17-63837636-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837636T>C , CM000679.2:g.63837636T>C | GRCh38 |
| NC_000017.10:g.61914996T>C , CM000679.1:g.61914996T>C | GRCh37 |
| NC_000017.9:g.59268728T>C | NCBI36 |
| NG_053004.1:g.10356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.105-11A>G | ||
| ENST00000698016.1:c.65A>G | ENSP00000513502.1:p.His22Arg | |
| ENST00000698022.1:c.34-11A>G | ENSP00000513504.1:n.34-11A>G | |
| ENST00000698027.1:c.65A>G | ENSP00000513505.1:p.His22Arg | |
| ENST00000448276.7:c.217-11A>G MANE Select | ENSP00000392617.2:n.217-11A>G | |
| ENST00000225742.13:c.-9-11A>G | ENSP00000225742.9:n.-9-11A>G | |
| ENST00000323347.14:c.73-11A>G | ENSP00000318451.10:n.73-11A>G | |
| ENST00000448276.6:c.217-11A>G | ENSP00000392617.2:n.217-11A>G | |
| ENST00000577686.1:n.53-399A>G | ||
| ENST00000584400.5:c.217-399A>G | ENSP00000464503.1:n.217-399A>G | |
| ENST00000613943.4:c.106-11A>G | ENSP00000483605.1:n.106-11A>G | |
| NM_001098426.1:c.217-11A>G | NP_001091896.1:n.217-11A>G | |
| XM_005257604.2:c.-9-11A>G | XP_005257661.2:n.-9-11A>G | |
| NM_001330439.1:c.-9-11A>G | NP_001317368.1:n.-9-11A>G | |
| NM_001330440.1:c.73-11A>G | NP_001317369.1:n.73-11A>G | |
| NM_001098426.2:c.217-11A>G MANE Select | NP_001091896.1:n.217-11A>G | |
| NM_001330440.2:c.73-11A>G | NP_001317369.1:n.73-11A>G |