Linked Data
ClinVar Variation Id:
1326534
ClinVar RCV Id:
RCV001786714
dbSNP Id:
rs114897153
gnomAD v2:
17-19552052-T-C
gnomAD v3:
17-19648739-T-C
gnomAD v4:
17-19648739-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19648739T>C , CM000679.2:g.19648739T>C | GRCh38 |
| NC_000017.10:g.19552052T>C , CM000679.1:g.19552052T>C | GRCh37 |
| NC_000017.9:g.19492644T>C | NCBI36 |
| NG_007095.2:g.4989T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467473.6:n.87-196T>C | ||
| ENST00000581518.6:c.-37-196T>C | ENSP00000461916.2:n.-37-196T>C | |
| ENST00000672357.1:c.-142T>C | ENSP00000500092.1:n.-142T>C | |
| ENST00000672465.1:c.-37-196T>C | ENSP00000500517.1:n.-37-196T>C | |
| ENST00000673136.1:c.-37-196T>C | ENSP00000500380.1:n.-37-196T>C | |
| ENST00000176643.10:c.-233T>C | ENSP00000176643.6:n.-233T>C | |
| ENST00000395575.6:c.-142T>C | ENSP00000378942.2:n.-142T>C | |
| ENST00000446398.6:c.-37-196T>C | ENSP00000395845.2:n.-37-196T>C | |
| ENST00000467473.5:n.121-196T>C | ||
| ENST00000580550.5:c.-9-224T>C | ENSP00000462964.1:n.-9-224T>C | |
| ENST00000581518.5:c.-233T>C | ENSP00000461916.1:n.-233T>C | |
| ENST00000582991.5:c.-233T>C | ENSP00000464153.1:n.-233T>C | |
| ENST00000626500.2:c.-233T>C | ENSP00000486283.1:n.-233T>C | |
| ENST00000631291.2:c.-233T>C | ENSP00000486085.1:n.-233T>C | |
| XM_011523733.1:c.-37-196T>C | XP_011522035.1:n.-37-196T>C | |
| XM_011523733.2:c.-37-196T>C | XP_011522035.1:n.-37-196T>C | |
| XM_017024356.2:c.-37-196T>C | XP_016879845.1:n.-37-196T>C | |
| XM_017024358.2:c.-37-196T>C | XP_016879847.1:n.-37-196T>C | |
| XM_024450652.1:c.-725-196T>C | XP_024306420.1:n.-725-196T>C | |
| NM_001369137.1:c.-37-196T>C | NP_001356066.1:n.-37-196T>C | |
| NM_001369138.1:c.-37-196T>C | NP_001356067.1:n.-37-196T>C | |
| NM_001369146.1:c.-37-196T>C | NP_001356075.1:n.-37-196T>C | |
| NM_001369148.1:c.-725-196T>C | NP_001356077.1:n.-725-196T>C | |
| NM_001369137.2:c.-37-196T>C | NP_001356066.1:n.-37-196T>C | |
| NM_001369138.2:c.-37-196T>C | NP_001356067.1:n.-37-196T>C | |
| NM_001369146.2:c.-37-196T>C | NP_001356075.1:n.-37-196T>C | |
| NM_001369148.2:c.-725-196T>C | NP_001356077.1:n.-725-196T>C |