Linked Data
ClinVar Variation Id:
204079
ClinVar RCV Id:
RCV000186285
dbSNP Id:
rs180177181
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869191G>C , CM000664.2:g.240869191G>C | GRCh38 |
| NC_000002.11:g.241808608G>C , CM000664.1:g.241808608G>C | GRCh37 |
| NC_000002.10:g.241457281G>C | NCBI36 |
| NG_008005.1:g.5447G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.187G>C MANE Select | ENSP00000302620.3:p.Gly63Arg | |
| ENST00000307503.3:c.187G>C | ENSP00000302620.3:p.Gly63Arg | |
| ENST00000472436.1:n.207G>C | ||
| NM_000030.2:c.187G>C | NP_000021.1:p.Gly63Arg | |
| XR_924060.1:n.405+1042C>G | ||
| NM_000030.3:c.187G>C MANE Select | NP_000021.1:p.Gly63Arg |