Linked Data
ClinVar Variation Id:
1782389
ClinVar RCV Id:
RCV002408344
dbSNP Id:
rs55971861
ExAC:
1:97848017 T / G
gnomAD v2:
1-97848017-T-G
gnomAD v3:
1-97382461-T-G
gnomAD v4:
1-97382461-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97382461T>G , CM000663.2:g.97382461T>G | GRCh38 |
| NC_000001.10:g.97848017T>G , CM000663.1:g.97848017T>G | GRCh37 |
| NC_000001.9:g.97620605T>G | NCBI36 |
| NG_008807.2:g.543599A>C , LRG_722:g.543599A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1906A>C MANE Select | ENSP00000359211.3:p.Ile636Leu | |
| ENST00000370192.7:c.1906A>C | ENSP00000359211.3:p.Ile636Leu | |
| NM_000110.3:c.1906A>C , LRG_722t1:c.1906A>C | NP_000101.2:p.Ile636Leu | |
| XM_005270562.3:c.1690A>C | XP_005270619.2:p.Ile564Leu | |
| XM_006710397.2:c.1906A>C | XP_006710460.1:p.Ile636Leu | |
| XR_947619.1:n.1347-1173T>G | ||
| XR_947620.1:n.1125-1173T>G | ||
| XR_947621.1:n.1347-1173T>G | ||
| XM_006710397.3:c.1906A>C | XP_006710460.1:p.Ile636Leu | |
| XM_017000507.1:c.1795A>C | XP_016855996.1:p.Ile599Leu | |
| XM_017000508.2:c.1411A>C | XP_016855997.1:p.Ile471Leu | |
| XM_017000509.2:c.1411A>C | XP_016855998.1:p.Ile471Leu | |
| XM_017000510.1:c.1411A>C | XP_016855999.1:p.Ile471Leu | |
| XR_001737686.2:n.692-1173T>G | ||
| XR_001737687.1:n.692-1173T>G | ||
| XR_001737688.2:n.692-1173T>G | ||
| NM_000110.4:c.1906A>C MANE Select | NP_000101.2:p.Ile636Leu |