Linked Data
ClinVar Variation Id:
322545
ClinVar RCV Id:
RCV000354609
dbSNP Id:
rs45541837
ExAC:
17:28549886 G / C
gnomAD v2:
17-28549886-G-C
gnomAD v3:
17-30222868-G-C
gnomAD v4:
17-30222868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30222868G>C , CM000679.2:g.30222868G>C | GRCh38 |
| NC_000017.10:g.28549886G>C , CM000679.1:g.28549886G>C | GRCh37 |
| NC_000017.9:g.25574012G>C | NCBI36 |
| NG_011747.2:g.18069C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.-173C>G MANE Select | ENSP00000498537.1:n.-173C>G | |
| ENST00000261707.7:c.-173C>G | ENSP00000261707.3:n.-173C>G | |
| ENST00000394821.2:c.-173C>G | ENSP00000378298.2:n.-173C>G | |
| ENST00000401766.6:c.-123-787C>G | ENSP00000385822.2:n.-123-787C>G | |
| NM_001045.5:c.-173C>G | NP_001036.1:n.-173C>G | |
| NM_001045.6:c.-173C>G MANE Select | NP_001036.1:n.-173C>G |