Linked Data
ClinVar Variation Id:
3001514
ClinVar RCV Id:
RCV003855137
dbSNP Id:
rs1356571690
gnomAD v3:
19-7642194-C-T
gnomAD v4:
19-7642194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7642194C>T , CM000681.2:g.7642194C>T | GRCh38 |
| NC_000019.9:g.7707080C>T , CM000681.1:g.7707080C>T | GRCh37 |
| NC_000019.8:g.7613080C>T | NCBI36 |
| NG_016709.1:g.10090C>T , LRG_165:g.10090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*618-9C>T | ENSP00000469553.2:n.*618-9C>T | |
| ENST00000600702.6:c.664-9C>T | ENSP00000471737.2:n.664-9C>T | |
| ENST00000698367.1:n.712-9C>T | ||
| ENST00000698368.1:c.*767-9C>T | ENSP00000513686.1:n.*767-9C>T | |
| ENST00000698369.1:n.1814-9C>T | ||
| ENST00000698370.1:n.471-9C>T | ||
| ENST00000698371.1:c.160-9C>T | ENSP00000513688.1:n.160-9C>T | |
| ENST00000221283.10:c.664-9C>T MANE Select | ENSP00000221283.4:n.664-9C>T | |
| ENST00000221283.9:c.664-9C>T | ENSP00000221283.4:n.664-9C>T | |
| ENST00000414284.6:c.655-9C>T | ENSP00000409471.1:n.655-9C>T | |
| ENST00000441779.6:c.697-9C>T | ENSP00000413606.2:n.697-9C>T | |
| ENST00000594221.5:n.110-9C>T | ||
| ENST00000597068.5:c.664-9C>T | ENSP00000471327.1:n.664-9C>T | |
| ENST00000598664.5:c.137-9C>T | ENSP00000472796.1:n.137-9C>T | |
| ENST00000599737.5:c.467-9C>T | ENSP00000471585.1:n.467-9C>T | |
| ENST00000622853.4:c.664-9C>T | ENSP00000480468.1:n.664-9C>T | |
| NM_001127396.2:c.655-9C>T | NP_001120868.1:n.655-9C>T | |
| NM_001272034.1:c.697-9C>T | NP_001258963.1:n.697-9C>T | |
| NM_006949.3:c.664-9C>T | NP_008880.2:n.664-9C>T | |
| NR_073560.1:n.713-9C>T | ||
| XM_011528210.1:c.664-9C>T | XP_011526512.1:n.664-9C>T | |
| XM_011528211.1:c.664-9C>T | XP_011526513.1:n.664-9C>T | |
| XM_011528212.1:c.664-9C>T | XP_011526514.1:n.664-9C>T | |
| XM_011528213.1:c.664-9C>T | XP_011526515.1:n.664-9C>T | |
| XM_011528210.2:c.664-9C>T | XP_011526512.1:n.664-9C>T | |
| XM_011528212.3:c.664-9C>T | XP_011526514.1:n.664-9C>T | |
| XR_001753741.2:n.702-9C>T | ||
| NM_006949.4:c.664-9C>T MANE Select | NP_008880.2:n.664-9C>T | |
| NM_001127396.3:c.655-9C>T | NP_001120868.1:n.655-9C>T | |
| NM_001272034.2:c.697-9C>T | NP_001258963.1:n.697-9C>T | |
| NR_073560.2:n.704-9C>T |