Linked Data
ClinVar Variation Id:
1135024
ClinVar RCV Id:
RCV001470161
dbSNP Id:
rs200841795
ExAC:
17:39780583 C / G
gnomAD v2:
17-39780583-C-G
gnomAD v3:
17-41624331-C-G
gnomAD v4:
17-41624331-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624331C>G , CM000679.2:g.41624331C>G | GRCh38 |
| NC_000017.10:g.39780583C>G , CM000679.1:g.39780583C>G | GRCh37 |
| NC_000017.9:g.37034109C>G | NCBI36 |
| NG_008625.1:g.5300G>C | |
| NG_009090.2:g.167382G>C , LRG_401:g.167382G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.179G>C MANE Select | ENSP00000308452.8:p.Cys60Ser | |
| ENST00000311208.12:c.179G>C | ENSP00000308452.8:p.Cys60Ser | |
| ENST00000463128.5:c.-312-125G>C | ENSP00000468672.1:n.-312-125G>C | |
| ENST00000491673.1:n.245G>C | ||
| ENST00000540235.5:c.-27G>C | ENSP00000441751.2:n.-27G>C | |
| ENST00000577817.3:c.134G>C | ENSP00000467418.1:p.Cys45Ser | |
| NM_000422.2:c.179G>C | NP_000413.1:p.Cys60Ser | |
| NM_000422.3:c.179G>C MANE Select | NP_000413.1:p.Cys60Ser |