Linked Data
ClinVar Variation Id:
352575
ClinVar RCV Id:
RCV000300179
dbSNP Id:
rs375159171
ExAC:
5:158747475 C / G
gnomAD v2:
5-158747475-C-G
gnomAD v3:
5-159320467-C-G
gnomAD v4:
5-159320467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320467C>G , CM000667.2:g.159320467C>G | GRCh38 |
| NC_000005.9:g.158747475C>G , CM000667.1:g.158747475C>G | GRCh37 |
| NC_000005.8:g.158680053C>G | NCBI36 |
| NG_009618.1:g.15007G>C , LRG_71:g.15007G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-95G>C | ENSP00000512849.1:n.-95G>C | |
| ENST00000696751.1:c.*31G>C | ENSP00000512850.1:n.*31G>C | |
| ENST00000231228.3:c.536G>C MANE Select | ENSP00000231228.2:p.Arg179Thr | |
| ENST00000231228.2:c.536G>C | ENSP00000231228.2:p.Arg179Thr | |
| NM_002187.2:c.536G>C , LRG_71t1:c.536G>C | NP_002178.2:p.Arg179Thr | |
| XR_001742945.1:n.18C>G | ||
| NM_002187.3:c.536G>C MANE Select | NP_002178.2:p.Arg179Thr |