Linked Data
ClinVar Variation Id:
225840
ClinVar RCV Id:
RCV000211060
dbSNP Id:
rs875989846
PubMed:
PMID:26996949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30612400C>G , CM000670.2:g.30612400C>G | GRCh38 |
| NC_000008.10:g.30469917C>G , CM000670.1:g.30469917C>G | GRCh37 |
| NC_000008.9:g.30589459C>G | NCBI36 |
| NG_052833.1:g.50842G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355904.9:c.448G>C MANE Select | ENSP00000348168.4:p.Ala150Pro | |
| ENST00000355904.8:c.448G>C | ENSP00000348168.4:p.Ala150Pro | |
| ENST00000518599.5:c.448G>C | ENSP00000429921.1:p.Ala150Pro | |
| ENST00000523499.5:c.*287G>C | ENSP00000428981.1:n.*287G>C | |
| NM_002095.4:c.448G>C | NP_002086.1:p.Ala150Pro | |
| XM_011544509.1:c.448G>C | XP_011542811.1:p.Ala150Pro | |
| XM_011544510.1:c.448G>C | XP_011542812.1:p.Ala150Pro | |
| NM_001348353.1:c.448G>C | NP_001335282.1:p.Ala150Pro | |
| NM_002095.5:c.448G>C | NP_002086.1:p.Ala150Pro | |
| XM_011544509.2:c.448G>C | XP_011542811.1:p.Ala150Pro | |
| XM_017013363.1:c.448G>C | XP_016868852.1:p.Ala150Pro | |
| XM_017013364.1:c.448G>C | XP_016868853.1:p.Ala150Pro | |
| XM_024447138.1:c.448G>C | XP_024302906.1:p.Ala150Pro | |
| NM_002095.6:c.448G>C MANE Select | NP_002086.1:p.Ala150Pro |