Linked Data
ClinVar Variation Id:
11430
ClinVar RCV Id:
RCV000012183
dbSNP Id:
rs104894904
PubMed:
PMID:11907515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152865819G>C , CM000685.2:g.152865819G>C | GRCh38 |
| NC_000023.10:g.152034363G>C , CM000685.1:g.152034363G>C | GRCh37 |
| NC_000023.9:g.151785019G>C | NCBI36 |
| NG_009163.1:g.39853G>C | |
| NG_009163.2:g.39853G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.544G>C MANE Select | ENSP00000359297.3:p.Ala182Pro | |
| ENST00000370274.7:c.544G>C | ENSP00000359297.3:p.Ala182Pro | |
| ENST00000432467.1:c.544G>C | ENSP00000396266.1:p.Ala182Pro | |
| ENST00000440023.5:c.544G>C | ENSP00000391854.1:p.Ala182Pro | |
| NM_001129765.1:c.544G>C | NP_001123237.1:p.Ala182Pro | |
| NM_015922.2:c.544G>C | NP_057006.1:p.Ala182Pro | |
| XM_011531178.1:c.544G>C | XP_011529480.1:p.Ala182Pro | |
| XM_011531178.2:c.544G>C | XP_011529480.1:p.Ala182Pro | |
| XM_017029564.1:c.592G>C | XP_016885053.1:p.Ala198Pro | |
| NM_015922.3:c.544G>C MANE Select | NP_057006.1:p.Ala182Pro | |
| NM_001129765.2:c.544G>C | NP_001123237.1:p.Ala182Pro |