Linked Data
ClinVar Variation Id:
10606
ClinVar RCV Id:
RCV000011352
dbSNP Id:
rs137852253
ERepo:
CA255378/MONDO:0010604/080
PubMed:
PMID:2320433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561694G>C , CM000685.2:g.139561694G>C | GRCh38 |
| NC_000023.10:g.138643853G>C , CM000685.1:g.138643853G>C | GRCh37 |
| NC_000023.9:g.138471519G>C | NCBI36 |
| NG_007994.1:g.35959G>C , LRG_556:g.35959G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1009G>C MANE Select | ENSP00000218099.2:p.Ala337Pro | |
| ENST00000643157.1:n.1676G>C | ||
| ENST00000218099.6:c.1009G>C | ENSP00000218099.2:p.Ala337Pro | |
| ENST00000394090.2:c.895G>C | ENSP00000377650.2:p.Ala299Pro | |
| NM_000133.3:c.1009G>C , LRG_556t1:c.1009G>C | NP_000124.1:p.Ala337Pro | |
| NM_001313913.1:c.895G>C | NP_001300842.1:p.Ala299Pro | |
| XM_005262397.3:c.880G>C | XP_005262454.1:p.Ala294Pro | |
| XM_005262397.4:c.880G>C | XP_005262454.1:p.Ala294Pro | |
| NM_000133.4:c.1009G>C MANE Select | NP_000124.1:p.Ala337Pro | |
| NM_001313913.2:c.895G>C | NP_001300842.1:p.Ala299Pro |