Linked Data
ClinVar Variation Id:
5986
ClinVar RCV Id:
RCV000006352
dbSNP Id:
rs104894498
PubMed:
PMID:12531900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55223967A>G , CM000677.2:g.55223967A>G | GRCh38 |
| NC_000015.9:g.55516165A>G , CM000677.1:g.55516165A>G | GRCh37 |
| NC_000015.8:g.53303457A>G | NCBI36 |
| NG_009103.1:g.70837T>C , LRG_96:g.70837T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697641.1:n.2425T>C | ||
| ENST00000697642.1:c.389T>C | ENSP00000513368.1:p.Leu130Pro | |
| ENST00000697643.1:c.389T>C | ENSP00000513369.1:p.Leu130Pro | |
| ENST00000697644.1:n.2557T>C | ||
| ENST00000336787.6:c.389T>C MANE Select | ENSP00000337761.1:p.Leu130Pro | |
| ENST00000336787.5:c.389T>C | ENSP00000337761.1:p.Leu130Pro | |
| ENST00000396307.6:c.389T>C | ENSP00000379601.2:p.Leu130Pro | |
| ENST00000564609.5:c.389T>C | ENSP00000455012.1:p.Leu130Pro | |
| ENST00000565972.5:c.389T>C | ENSP00000456536.1:p.Leu130Pro | |
| ENST00000566877.5:c.389T>C | ENSP00000454695.1:p.Leu130Pro | |
| ENST00000567380.5:c.389T>C | ENSP00000458127.1:p.Leu130Pro | |
| ENST00000569493.5:c.389T>C | ENSP00000456059.1:p.Leu130Pro | |
| NM_004580.4:c.389T>C | NP_004571.2:p.Leu130Pro | |
| NM_183234.2:c.389T>C | NP_899057.1:p.Leu130Pro | |
| NM_183235.2:c.389T>C | NP_899058.1:p.Leu130Pro | |
| NM_183236.2:c.389T>C | NP_899059.1:p.Leu130Pro | |
| XM_005254576.3:c.389T>C | XP_005254633.1:p.Leu130Pro | |
| XM_011521852.1:c.389T>C | XP_011520154.1:p.Leu130Pro | |
| XM_011521853.1:c.389T>C | XP_011520155.1:p.Leu130Pro | |
| XM_011521854.1:c.389T>C | XP_011520156.1:p.Leu130Pro | |
| XM_011521855.1:c.389T>C | XP_011520157.1:p.Leu130Pro | |
| XM_011521856.1:c.389T>C | XP_011520158.1:p.Leu130Pro | |
| XM_005254576.5:c.389T>C | XP_005254633.1:p.Leu130Pro | |
| XM_011521855.3:c.389T>C | XP_011520157.1:p.Leu130Pro | |
| XM_011521856.2:c.389T>C | XP_011520158.1:p.Leu130Pro | |
| XM_024450009.1:c.389T>C | XP_024305777.1:p.Leu130Pro | |
| NM_183235.3:c.389T>C MANE Select | NP_899058.1:p.Leu130Pro | |
| NM_004580.5:c.389T>C | NP_004571.2:p.Leu130Pro | |
| NM_183236.3:c.389T>C | NP_899059.1:p.Leu130Pro |