Linked Data
ClinVar Variation Id:
245956
dbSNP Id:
rs879254014
gnomAD v3:
5-112737901-A-C
gnomAD v4:
5-112737901-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112737901A>C , CM000667.2:g.112737901A>C | GRCh38 |
| NC_000005.9:g.112073598A>C , CM000667.1:g.112073598A>C | GRCh37 |
| NC_000005.8:g.112101497A>C | NCBI36 |
| NG_008481.4:g.50381A>C , LRG_130:g.50381A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.-43A>C | ENSP00000473355.2:n.-43A>C | |
| ENST00000505084.2:n.14A>C | ||
| ENST00000505350.2:c.166-16972A>C | ENSP00000481752.1:n.166-16972A>C | |
| ENST00000507379.6:c.166-28425A>C | ENSP00000423224.2:n.166-28425A>C | |
| ENST00000509732.6:c.-18-16972A>C | ENSP00000426541.2:n.-18-16972A>C | |
| ENST00000257430.9:c.-43A>C MANE Select | ENSP00000257430.4:n.-43A>C | |
| ENST00000257430.8:c.-43A>C | ENSP00000257430.4:n.-43A>C | |
| ENST00000505350.1:c.166-16972A>C | ENSP00000481752.1:n.166-16972A>C | |
| ENST00000507379.5:c.166-28425A>C | ENSP00000423224.1:n.166-28425A>C | |
| ENST00000508376.6:c.-151A>C | ENSP00000427089.2:n.-151A>C | |
| ENST00000508624.5:c.-43A>C | ENSP00000424265.1:n.-43A>C | |
| ENST00000509732.5:c.-18-16972A>C | ENSP00000426541.1:n.-18-16972A>C | |
| NM_000038.5:c.-43A>C | NP_000029.2:n.-43A>C | |
| NM_001127510.2:c.-151A>C | NP_001120982.1:n.-151A>C | |
| NM_001127511.2:c.166-28425A>C | NP_001120983.2:n.166-28425A>C | |
| NM_001354895.1:c.-18-16972A>C | NP_001341824.1:n.-18-16972A>C | |
| NM_001354896.1:c.-43A>C | NP_001341825.1:n.-43A>C | |
| NM_001354897.1:c.166-28425A>C | NP_001341826.1:n.166-28425A>C | |
| NM_001354898.1:c.-73A>C | NP_001341827.1:n.-73A>C | |
| NM_001354899.1:c.-43A>C | NP_001341828.1:n.-43A>C | |
| NM_001354900.1:c.-67A>C | NP_001341829.1:n.-67A>C | |
| NM_001354901.1:c.-67A>C | NP_001341830.1:n.-67A>C | |
| NM_001354902.1:c.166-28425A>C | NP_001341831.1:n.166-28425A>C | |
| NM_001354903.1:c.-43A>C | NP_001341832.1:n.-43A>C | |
| NM_001354904.1:c.-73A>C | NP_001341833.1:n.-73A>C | |
| NM_001354905.1:c.-67A>C | NP_001341834.1:n.-67A>C | |
| NM_001354906.1:c.-1078A>C | NP_001341835.1:n.-1078A>C | |
| NM_000038.6:c.-43A>C MANE Select | NP_000029.2:n.-43A>C | |
| NM_001127510.3:c.-151A>C | NP_001120982.1:n.-151A>C | |
| NM_001127511.3:c.166-28425A>C | NP_001120983.2:n.166-28425A>C | |
| NM_001354895.2:c.-18-16972A>C | NP_001341824.1:n.-18-16972A>C | |
| NM_001354896.2:c.-43A>C | NP_001341825.1:n.-43A>C | |
| NM_001354897.2:c.166-28425A>C | NP_001341826.1:n.166-28425A>C | |
| NM_001354898.2:c.-73A>C | NP_001341827.1:n.-73A>C | |
| NM_001354899.2:c.-43A>C | NP_001341828.1:n.-43A>C | |
| NM_001354900.2:c.-67A>C | NP_001341829.1:n.-67A>C | |
| NM_001354901.2:c.-67A>C | NP_001341830.1:n.-67A>C | |
| NM_001354902.2:c.166-28425A>C | NP_001341831.1:n.166-28425A>C | |
| NM_001354903.2:c.-43A>C | NP_001341832.1:n.-43A>C | |
| NM_001354904.2:c.-73A>C | NP_001341833.1:n.-73A>C | |
| NM_001354905.2:c.-67A>C | NP_001341834.1:n.-67A>C | |
| NM_001354906.2:c.-1078A>C | NP_001341835.1:n.-1078A>C |