Linked Data
ClinVar Variation Id:
39866
ClinVar RCV Id:
RCV000033093
dbSNP Id:
rs397514625
PubMed:
PMID:22832386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.823579A>C , CM000673.2:g.823579A>C | GRCh38 |
| NC_000011.9:g.823579A>C , CM000673.1:g.823579A>C | GRCh37 |
| NC_000011.8:g.813579A>C | NCBI36 |
| NG_023394.1:g.9679A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.749A>C MANE Select | ENSP00000337701.4:p.Gln250Pro | |
| ENST00000336615.8:c.749A>C | ENSP00000337701.4:p.Gln250Pro | |
| ENST00000525250.5:n.1355A>C | ||
| ENST00000529255.1:n.37A>C | ||
| ENST00000617551.1:c.-502A>C | ENSP00000481602.1:n.-502A>C | |
| NM_020376.3:c.749A>C | NP_065109.1:p.Gln250Pro | |
| XM_006718265.2:c.749A>C | XP_006718328.1:p.Gln250Pro | |
| XM_006718266.2:c.749A>C | XP_006718329.1:p.Gln250Pro | |
| XM_006718265.3:c.749A>C | XP_006718328.1:p.Gln250Pro | |
| XM_006718266.3:c.749A>C | XP_006718329.1:p.Gln250Pro | |
| XM_017018028.1:c.749A>C | XP_016873517.1:p.Gln250Pro | |
| XM_024448618.1:c.749A>C | XP_024304386.1:p.Gln250Pro | |
| NM_020376.4:c.749A>C MANE Select | NP_065109.1:p.Gln250Pro |