Linked Data
ClinVar Variation Id:
31120
ClinVar RCV Id:
RCV000024116
dbSNP Id:
rs387907115
PubMed:
PMID:21765411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47004976C>T , CM000665.2:g.47004976C>T | GRCh38 |
| NC_000003.11:g.47046466C>T , CM000665.1:g.47046466C>T | GRCh37 |
| NC_000003.10:g.47021470C>T | NCBI36 |
| NG_031914.1:g.30294C>T , LRG_568:g.30294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.6299C>T MANE Select | ENSP00000415034.2:p.Pro2100Leu | |
| ENST00000651747.1:c.6197C>T | ENSP00000499216.1:p.Pro2066Leu | |
| ENST00000416683.5:c.4162C>T | ||
| ENST00000441027.5:c.319-205C>T | ENSP00000409601.1:n.319-205C>T | |
| ENST00000443829.5:c.1404C>T | ||
| ENST00000450053.7:c.6299C>T | ENSP00000415034.2:p.Pro2100Leu | |
| ENST00000486870.1:n.358C>T | ||
| NM_015175.2:c.6299C>T , LRG_568t1:c.6299C>T | NP_055990.1:p.Pro2100Leu | |
| XM_005264992.2:c.6197C>T | XP_005265049.1:p.Pro2066Leu | |
| XM_005264993.2:c.2771C>T | XP_005265050.1:p.Pro924Leu | |
| XM_006713072.2:c.6218C>T | XP_006713135.1:p.Pro2073Leu | |
| XM_011533532.1:c.6278C>T | XP_011531834.1:p.Pro2093Leu | |
| XM_011533533.1:c.6299C>T | XP_011531835.1:p.Pro2100Leu | |
| XM_011533534.1:c.5930C>T | XP_011531836.1:p.Pro1977Leu | |
| XM_011533535.1:c.5759C>T | XP_011531837.1:p.Pro1920Leu | |
| XM_011533536.1:c.5645C>T | XP_011531838.1:p.Pro1882Leu | |
| XM_011533537.1:c.5207C>T | XP_011531839.1:p.Pro1736Leu | |
| XR_940397.1:n.6475C>T | ||
| NM_001365116.1:c.6197C>T | NP_001352045.1:p.Pro2066Leu | |
| XM_006713072.3:c.6218C>T | XP_006713135.1:p.Pro2073Leu | |
| XM_011533533.2:c.6299C>T | XP_011531835.1:p.Pro2100Leu | |
| XM_017006010.1:c.6299C>T | XP_016861499.1:p.Pro2100Leu | |
| XM_017006011.1:c.6278C>T | XP_016861500.1:p.Pro2093Leu | |
| XM_017006012.1:c.6218C>T | XP_016861501.1:p.Pro2073Leu | |
| XM_017006013.1:c.6299C>T | XP_016861502.1:p.Pro2100Leu | |
| XM_017006014.1:c.6197C>T | XP_016861503.1:p.Pro2066Leu | |
| XM_017006015.1:c.5930C>T | XP_016861504.1:p.Pro1977Leu | |
| XM_017006016.1:c.5759C>T | XP_016861505.1:p.Pro1920Leu | |
| XM_017006017.1:c.2771C>T | XP_016861506.1:p.Pro924Leu | |
| XR_940397.2:n.6475C>T | ||
| NM_001365116.2:c.6197C>T | NP_001352045.1:p.Pro2066Leu | |
| NM_015175.3:c.6299C>T MANE Select | NP_055990.1:p.Pro2100Leu |