Linked Data
ClinVar Variation Id:
1470885
ClinVar RCV Id:
RCV001964399
dbSNP Id:
rs748723043
ExAC:
10:135186801 C / G
gnomAD v2:
10-135186801-C-G
gnomAD v3:
10-133373297-C-G
gnomAD v4:
10-133373297-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373297C>G , CM000672.2:g.133373297C>G | GRCh38 |
| NC_000010.10:g.135186801C>G , CM000672.1:g.135186801C>G | GRCh37 |
| NC_000010.9:g.135036791C>G | NCBI36 |
| NG_042077.1:g.5108G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.37G>C MANE Select | ENSP00000357535.3:p.Gly13Arg | |
| ENST00000368547.3:c.37G>C | ENSP00000357535.3:p.Gly13Arg | |
| NM_004092.3:c.37G>C | NP_004083.3:p.Gly13Arg | |
| XR_002956965.1:n.100G>C | ||
| NM_004092.4:c.37G>C MANE Select | NP_004083.3:p.Gly13Arg |