Linked Data
ClinVar Variation Id:
1109199
ClinVar RCV Id:
RCV001434968
dbSNP Id:
rs754345839
ExAC:
17:41062951 T / C
gnomAD v2:
17-41062951-T-C
gnomAD v3:
17-42910934-T-C
gnomAD v4:
17-42910934-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42910934T>C , CM000679.2:g.42910934T>C | GRCh38 |
| NC_000017.10:g.41062951T>C , CM000679.1:g.41062951T>C | GRCh37 |
| NC_000017.9:g.38316477T>C | NCBI36 |
| NG_011808.1:g.15137T>C , LRG_147:g.15137T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.582T>C MANE Select | ENSP00000253801.1:p.Thr194= | |
| ENST00000253801.6:c.582T>C | ENSP00000253801.1:p.Thr194= | |
| ENST00000585489.1:c.466T>C | ENSP00000466202.1:p.Phe156Leu | |
| ENST00000592383.5:c.505T>C | ENSP00000465958.1:p.Phe169Leu | |
| NM_000151.3:c.582T>C | NP_000142.2:p.Thr194= | |
| NM_001270397.1:c.505T>C | NP_001257326.1:p.Phe169Leu | |
| NM_000151.4:c.582T>C MANE Select | NP_000142.2:p.Thr194= | |
| NM_001270397.2:c.505T>C | NP_001257326.1:p.Phe169Leu |