Linked Data
ClinVar Variation Id:
260104
dbSNP Id:
rs8104339
ExAC:
19:7703605 C / T
gnomAD v2:
19-7703605-C-T
gnomAD v3:
19-7638719-C-T
gnomAD v4:
19-7638719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7638719C>T , CM000681.2:g.7638719C>T | GRCh38 |
| NC_000019.9:g.7703605C>T , CM000681.1:g.7703605C>T | GRCh37 |
| NC_000019.8:g.7609605C>T | NCBI36 |
| NG_016709.1:g.6615C>T , LRG_165:g.6615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.139-7C>T | ENSP00000469553.2:n.139-7C>T | |
| ENST00000600702.6:c.38-7C>T | ENSP00000471737.2:n.38-7C>T | |
| ENST00000698367.1:n.86-7C>T | ||
| ENST00000698368.1:c.*141-7C>T | ENSP00000513686.1:n.*141-7C>T | |
| ENST00000698369.1:n.265-7C>T | ||
| ENST00000221283.10:c.38-7C>T MANE Select | ENSP00000221283.4:n.38-7C>T | |
| ENST00000221283.9:c.38-7C>T | ENSP00000221283.4:n.38-7C>T | |
| ENST00000414284.6:c.38-7C>T | ENSP00000409471.1:n.38-7C>T | |
| ENST00000441779.6:c.38-7C>T | ENSP00000413606.2:n.38-7C>T | |
| ENST00000593535.5:c.-59-7C>T | ENSP00000470313.1:n.-59-7C>T | |
| ENST00000595181.5:n.75-7C>T | ||
| ENST00000595866.1:c.137-7C>T | ||
| ENST00000595950.5:c.38-7C>T | ENSP00000471161.1:n.38-7C>T | |
| ENST00000597068.5:c.38-7C>T | ENSP00000471327.1:n.38-7C>T | |
| ENST00000597467.1:n.83-7C>T | ||
| ENST00000598664.5:c.52-3315C>T | ENSP00000472796.1:n.52-3315C>T | |
| ENST00000599243.5:c.*184-7C>T | ENSP00000470078.1:n.*184-7C>T | |
| ENST00000599905.1:n.73-7C>T | ||
| ENST00000622853.4:c.38-7C>T | ENSP00000480468.1:n.38-7C>T | |
| NM_001127396.2:c.38-7C>T | NP_001120868.1:n.38-7C>T | |
| NM_001272034.1:c.38-7C>T | NP_001258963.1:n.38-7C>T | |
| NM_006949.3:c.38-7C>T | NP_008880.2:n.38-7C>T | |
| NR_073560.1:n.87-7C>T | ||
| XM_011528210.1:c.38-7C>T | XP_011526512.1:n.38-7C>T | |
| XM_011528211.1:c.38-7C>T | XP_011526513.1:n.38-7C>T | |
| XM_011528212.1:c.38-7C>T | XP_011526514.1:n.38-7C>T | |
| XM_011528213.1:c.38-7C>T | XP_011526515.1:n.38-7C>T | |
| XM_011528210.2:c.38-7C>T | XP_011526512.1:n.38-7C>T | |
| XM_011528212.3:c.38-7C>T | XP_011526514.1:n.38-7C>T | |
| XR_001753741.2:n.76-7C>T | ||
| NM_006949.4:c.38-7C>T MANE Select | NP_008880.2:n.38-7C>T | |
| NM_001127396.3:c.38-7C>T | NP_001120868.1:n.38-7C>T | |
| NM_001272034.2:c.38-7C>T | NP_001258963.1:n.38-7C>T | |
| NR_073560.2:n.78-7C>T |