Linked Data
ClinVar Variation Id:
10128
ClinVar RCV Id:
RCV000010841
dbSNP Id:
rs137852366
PubMed:
PMID:3122181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896102C>G , CM000685.2:g.154896102C>G | GRCh38 |
| NC_000023.10:g.154124377C>G , CM000685.1:g.154124377C>G | GRCh37 |
| NC_000023.9:g.153777571C>G | NCBI36 |
| NG_011403.1:g.131622G>C | |
| NG_011403.2:g.131622G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6404G>C MANE Select | ENSP00000353393.4:p.Arg2135Pro | |
| ENST00000360256.8:c.6404G>C | ENSP00000353393.4:p.Arg2135Pro | |
| NM_000132.3:c.6404G>C | NP_000123.1:p.Arg2135Pro | |
| XM_011531126.1:c.6299G>C | XP_011529428.1:p.Arg2100Pro | |
| NM_000132.4:c.6404G>C MANE Select | NP_000123.1:p.Arg2135Pro |