Linked Data
ClinVar Variation Id:
2521
ClinVar RCV Id:
RCV000002629
dbSNP Id:
rs104894490
PubMed:
PMID:15643603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22812252G>C , CM000677.2:g.22812252G>C | GRCh38 |
| NC_000015.9:g.23060816C>G , CM000677.1:g.23060816C>G | GRCh37 |
| NC_000015.8:g.20612257C>G | NCBI36 |
| NG_009056.1:g.31028G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.316G>C MANE Select | ENSP00000337452.4:p.Gly106Arg | |
| ENST00000337435.8:c.316G>C | ENSP00000337452.4:p.Gly106Arg | |
| ENST00000437912.6:c.91G>C | ENSP00000393962.2:p.Gly31Arg | |
| ENST00000557930.1:c.160G>C | ENSP00000453797.1:p.Gly54Arg | |
| ENST00000559448.5:c.206G>C | ||
| ENST00000560069.5:n.169G>C | ||
| ENST00000561183.5:c.91G>C | ENSP00000453722.1:p.Gly31Arg | |
| NM_001142275.1:c.91G>C | NP_001135747.1:p.Gly31Arg | |
| NM_144599.4:c.316G>C | NP_653200.2:p.Gly106Arg | |
| NM_144599.5:c.316G>C MANE Select | NP_653200.2:p.Gly106Arg |