Linked Data
ClinVar Variation Id:
1280222
ClinVar RCV Id:
RCV001695374
dbSNP Id:
rs12078940
ExAC:
1:97848041 T / G
gnomAD v2:
1-97848041-T-G
gnomAD v3:
1-97382485-T-G
gnomAD v4:
1-97382485-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97382485T>G , CM000663.2:g.97382485T>G | GRCh38 |
| NC_000001.10:g.97848041T>G , CM000663.1:g.97848041T>G | GRCh37 |
| NC_000001.9:g.97620629T>G | NCBI36 |
| NG_008807.2:g.543575A>C , LRG_722:g.543575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1906-24A>C MANE Select | ENSP00000359211.3:n.1906-24A>C | |
| ENST00000370192.7:c.1906-24A>C | ENSP00000359211.3:n.1906-24A>C | |
| NM_000110.3:c.1906-24A>C , LRG_722t1:c.1906-24A>C | NP_000101.2:n.1906-24A>C | |
| XM_005270562.3:c.1690-24A>C | XP_005270619.2:n.1690-24A>C | |
| XM_006710397.2:c.1906-24A>C | XP_006710460.1:n.1906-24A>C | |
| XR_947619.1:n.1347-1149T>G | ||
| XR_947620.1:n.1125-1149T>G | ||
| XR_947621.1:n.1347-1149T>G | ||
| XM_006710397.3:c.1906-24A>C | XP_006710460.1:n.1906-24A>C | |
| XM_017000507.1:c.1795-24A>C | XP_016855996.1:n.1795-24A>C | |
| XM_017000508.2:c.1411-24A>C | XP_016855997.1:n.1411-24A>C | |
| XM_017000509.2:c.1411-24A>C | XP_016855998.1:n.1411-24A>C | |
| XM_017000510.1:c.1411-24A>C | XP_016855999.1:n.1411-24A>C | |
| XR_001737686.2:n.692-1149T>G | ||
| XR_001737687.1:n.692-1149T>G | ||
| XR_001737688.2:n.692-1149T>G | ||
| NM_000110.4:c.1906-24A>C MANE Select | NP_000101.2:n.1906-24A>C |