Linked Data
ClinVar Variation Id:
254266
ClinVar RCV Id:
RCV000240924
dbSNP Id:
rs886037943
PubMed:
PMID:23934111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35315079A>G , CM000673.2:g.35315079A>G | GRCh38 |
| NC_000011.9:g.35336626A>G , CM000673.1:g.35336626A>G | GRCh37 |
| NC_000011.8:g.35293202A>G | NCBI36 |
| NG_008727.1:g.109480T>C | |
| NG_008727.2:g.109480T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278379.9:c.254T>C MANE Select | ENSP00000278379.3:p.Leu85Pro | |
| ENST00000395750.6:c.242T>C | ENSP00000379099.2:p.Leu81Pro | |
| ENST00000395753.6:c.227T>C | ENSP00000379102.1:p.Leu76Pro | |
| ENST00000449068.2:c.254T>C | ENSP00000406133.2:p.Leu85Pro | |
| ENST00000531628.2:c.254T>C | ENSP00000436029.2:p.Leu85Pro | |
| ENST00000606205.6:c.254T>C | ENSP00000476124.2:p.Leu85Pro | |
| ENST00000642171.1:c.254T>C | ENSP00000495538.1:p.Leu85Pro | |
| ENST00000642183.1:n.516T>C | ||
| ENST00000642224.1:n.543T>C | ||
| ENST00000642392.1:n.2527T>C | ||
| ENST00000642448.1:n.346T>C | ||
| ENST00000642578.1:c.227T>C | ENSP00000494076.1:p.Leu76Pro | |
| ENST00000643000.1:c.227T>C | ENSP00000495164.1:p.Leu76Pro | |
| ENST00000643134.1:c.254T>C | ENSP00000495188.1:p.Leu85Pro | |
| ENST00000643154.1:n.834T>C | ||
| ENST00000643305.1:c.254T>C | ENSP00000494828.1:p.Leu85Pro | |
| ENST00000643454.1:c.245T>C | ENSP00000495126.1:p.Leu82Pro | |
| ENST00000643522.1:c.254T>C | ENSP00000496375.1:p.Leu85Pro | |
| ENST00000644050.1:c.227T>C | ENSP00000496123.1:p.Leu76Pro | |
| ENST00000644299.1:c.227T>C | ENSP00000494669.1:p.Leu76Pro | |
| ENST00000644351.1:c.254T>C | ENSP00000496587.1:p.Leu85Pro | |
| ENST00000644459.1:c.254T>C | ENSP00000495861.1:p.Leu85Pro | |
| ENST00000644779.1:c.365T>C | ENSP00000494258.1:p.Leu122Pro | |
| ENST00000644868.1:c.245T>C | ENSP00000496760.1:p.Leu82Pro | |
| ENST00000645194.1:c.227T>C | ENSP00000496093.1:p.Leu76Pro | |
| ENST00000645303.1:c.269T>C | ENSP00000496667.1:p.Leu90Pro | |
| ENST00000645634.1:c.227T>C | ENSP00000493945.1:p.Leu76Pro | |
| ENST00000645659.1:n.102T>C | ||
| ENST00000645892.1:n.359T>C | ||
| ENST00000646080.1:c.245T>C | ENSP00000494113.1:p.Leu82Pro | |
| ENST00000646099.1:c.242T>C | ENSP00000495799.1:p.Leu81Pro | |
| ENST00000646112.1:n.336T>C | ||
| ENST00000646167.1:c.104T>C | ENSP00000495246.1:p.Leu35Pro | |
| ENST00000646585.1:n.409T>C | ||
| ENST00000646847.1:c.254T>C | ENSP00000493924.1:p.Leu85Pro | |
| ENST00000647104.1:c.227T>C | ENSP00000494025.1:p.Leu76Pro | |
| ENST00000647372.1:c.227T>C | ENSP00000495277.1:p.Leu76Pro | |
| ENST00000278379.7:c.254T>C | ENSP00000278379.3:p.Leu85Pro | |
| ENST00000395750.5:c.227T>C | ENSP00000379099.1:p.Leu76Pro | |
| ENST00000395753.5:c.227T>C | ENSP00000379102.1:p.Leu76Pro | |
| ENST00000449068.1:c.242T>C | ENSP00000406133.1:p.Leu81Pro | |
| ENST00000606205.5:c.254T>C | ENSP00000476124.1:p.Leu85Pro | |
| NM_001195728.2:c.227T>C | NP_001182657.1:p.Leu76Pro | |
| NM_001252652.1:c.227T>C | NP_001239581.1:p.Leu76Pro | |
| NM_004171.3:c.254T>C | NP_004162.2:p.Leu85Pro | |
| XM_005253067.1:c.245T>C | XP_005253124.1:p.Leu82Pro | |
| XM_011520284.1:c.302T>C | XP_011518586.1:p.Leu101Pro | |
| XM_011520285.1:c.242T>C | XP_011518587.1:p.Leu81Pro | |
| XM_011520286.1:c.302T>C | XP_011518588.1:p.Leu101Pro | |
| XM_011520287.1:c.302T>C | XP_011518589.1:p.Leu101Pro | |
| XM_011520285.2:c.242T>C | XP_011518587.1:p.Leu81Pro | |
| XM_017018136.1:c.269T>C | XP_016873625.1:p.Leu90Pro | |
| XM_017018137.1:c.227T>C | XP_016873626.1:p.Leu76Pro | |
| XM_017018138.1:c.227T>C | XP_016873627.1:p.Leu76Pro | |
| XM_017018139.1:c.254T>C | XP_016873628.1:p.Leu85Pro | |
| NM_004171.4:c.254T>C MANE Select | NP_004162.2:p.Leu85Pro | |
| NM_001195728.3:c.227T>C | NP_001182657.1:p.Leu76Pro | |
| NM_001252652.2:c.227T>C | NP_001239581.1:p.Leu76Pro |