Linked Data
ClinVar Variation Id:
1209996
ClinVar RCV Id:
RCV001579723
dbSNP Id:
rs2101564724
gnomAD v4:
1-97382442-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97382442A>G , CM000663.2:g.97382442A>G | GRCh38 |
| NC_000001.10:g.97847998A>G , CM000663.1:g.97847998A>G | GRCh37 |
| NC_000001.9:g.97620586A>G | NCBI36 |
| NG_008807.2:g.543618T>C , LRG_722:g.543618T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1925T>C MANE Select | ENSP00000359211.3:p.Met642Thr | |
| ENST00000370192.7:c.1925T>C | ENSP00000359211.3:p.Met642Thr | |
| NM_000110.3:c.1925T>C , LRG_722t1:c.1925T>C | NP_000101.2:p.Met642Thr | |
| XM_005270562.3:c.1709T>C | XP_005270619.2:p.Met570Thr | |
| XM_006710397.2:c.1925T>C | XP_006710460.1:p.Met642Thr | |
| XR_947619.1:n.1347-1192A>G | ||
| XR_947620.1:n.1125-1192A>G | ||
| XR_947621.1:n.1347-1192A>G | ||
| XM_006710397.3:c.1925T>C | XP_006710460.1:p.Met642Thr | |
| XM_017000507.1:c.1814T>C | XP_016855996.1:p.Met605Thr | |
| XM_017000508.2:c.1430T>C | XP_016855997.1:p.Met477Thr | |
| XM_017000509.2:c.1430T>C | XP_016855998.1:p.Met477Thr | |
| XM_017000510.1:c.1430T>C | XP_016855999.1:p.Met477Thr | |
| XR_001737686.2:n.692-1192A>G | ||
| XR_001737687.1:n.692-1192A>G | ||
| XR_001737688.2:n.692-1192A>G | ||
| NM_000110.4:c.1925T>C MANE Select | NP_000101.2:p.Met642Thr |