Linked Data
ClinVar Variation Id:
313882
dbSNP Id:
rs759043669
ExAC:
14:68229142 T / C
gnomAD v2:
14-68229142-T-C
gnomAD v3:
14-67762425-T-C
gnomAD v4:
14-67762425-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67762425T>C , CM000676.2:g.67762425T>C | GRCh38 |
| NC_000014.8:g.68229142T>C , CM000676.1:g.68229142T>C | GRCh37 |
| NC_000014.7:g.67298895T>C | NCBI36 |
| NG_011836.1:g.59165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6160-13A>G MANE Select | ENSP00000251119.5:n.6160-13A>G | |
| ENST00000676512.1:c.6178-13A>G | ENSP00000504552.1:n.6178-13A>G | |
| ENST00000676620.1:c.6082-13A>G | ENSP00000504587.1:n.6082-13A>G | |
| ENST00000678386.1:c.6205-13A>G | ENSP00000503677.1:n.6205-13A>G | |
| ENST00000347230.8:c.6160-13A>G | ENSP00000251119.5:n.6160-13A>G | |
| ENST00000394455.6:n.1423-13A>G | ||
| ENST00000554523.5:n.6297-13A>G | ||
| ENST00000554557.5:c.*4138-13A>G | ENSP00000450431.1:n.*4138-13A>G | |
| ENST00000555452.1:c.6160-13A>G | ENSP00000450603.1:n.6160-13A>G | |
| NM_015346.3:c.6160-13A>G | NP_056161.2:n.6160-13A>G | |
| XM_006720093.2:c.6160-13A>G | XP_006720156.1:n.6160-13A>G | |
| XM_011536606.1:c.4651-13A>G | XP_011534908.1:n.4651-13A>G | |
| XM_011536607.1:c.3835-13A>G | XP_011534909.1:n.3835-13A>G | |
| XM_011536608.1:c.3742-13A>G | XP_011534910.1:n.3742-13A>G | |
| XM_017021124.1:c.6178-13A>G | XP_016876613.1:n.6178-13A>G | |
| XM_017021125.1:c.6178-13A>G | XP_016876614.1:n.6178-13A>G | |
| XM_017021126.1:c.4669-13A>G | XP_016876615.1:n.4669-13A>G | |
| XM_017021127.2:c.3853-13A>G | XP_016876616.1:n.3853-13A>G | |
| XM_017021128.1:c.3760-13A>G | XP_016876617.1:n.3760-13A>G | |
| NM_015346.4:c.6160-13A>G MANE Select | NP_056161.2:n.6160-13A>G |