Linked Data
ClinVar Variation Id:
17021
ClinVar RCV Id:
RCV000018548
dbSNP Id:
rs104894408
PubMed:
PMID:11912510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189548C>G , CM000675.2:g.20189548C>G | GRCh38 |
| NC_000013.10:g.20763687C>G , CM000675.1:g.20763687C>G | GRCh37 |
| NC_000013.9:g.19661687C>G | NCBI36 |
| NG_008358.1:g.8428G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.34G>C | ENSP00000372295.1:p.Gly12Arg | |
| ENST00000382848.5:c.34G>C MANE Select | ENSP00000372299.4:p.Gly12Arg | |
| ENST00000382844.1:c.34G>C | ENSP00000372295.1:p.Gly12Arg | |
| ENST00000382848.4:c.34G>C | ENSP00000372299.4:p.Gly12Arg | |
| NM_004004.5:c.34G>C | NP_003995.2:p.Gly12Arg | |
| XM_011535049.1:c.34G>C | XP_011533351.1:p.Gly12Arg | |
| XM_011535049.2:c.34G>C | XP_011533351.1:p.Gly12Arg | |
| NM_004004.6:c.34G>C MANE Select | NP_003995.2:p.Gly12Arg |