Linked Data
ClinVar Variation Id:
373656
ClinVar RCV Id:
RCV000414253
dbSNP Id:
rs755288537
ExAC:
18:19359443 T / C
gnomAD v2:
18-19359443-T-C
gnomAD v4:
18-21779482-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21779482T>C , CM000680.2:g.21779482T>C | GRCh38 |
| NC_000018.9:g.19359443T>C , CM000680.1:g.19359443T>C | GRCh37 |
| NC_000018.8:g.17613441T>C | NCBI36 |
| NG_033272.2:g.79526T>C , LRG_759:g.79526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.705T>C MANE Select | ENSP00000261537.6:p.Gly235= | |
| ENST00000261537.6:c.705T>C | ENSP00000261537.6:p.Gly235= | |
| ENST00000578646.5:n.643T>C | ||
| NM_020774.3:c.705T>C , LRG_759t1:c.705T>C | NP_065825.1:p.Gly235= | |
| XR_935234.1:n.1496T>C | ||
| XR_935235.1:n.1496T>C | ||
| XM_017025873.1:c.189T>C | XP_016881362.1:p.Gly63= | |
| XM_017025874.1:c.705T>C | XP_016881363.1:p.Gly235= | |
| XM_017025875.1:c.705T>C | XP_016881364.1:p.Gly235= | |
| NM_020774.4:c.705T>C MANE Select | NP_065825.1:p.Gly235= |