Linked Data
ClinVar Variation Id:
376333
ClinVar RCV Id:
RCV000442075
dbSNP Id:
rs1057519857
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724772T>C , CM000679.2:g.39724772T>C | GRCh38 |
| NC_000017.10:g.37881025T>C , CM000679.1:g.37881025T>C | GRCh37 |
| NC_000017.9:g.35134551T>C | NCBI36 |
| NG_007503.1:g.41633T>C , LRG_724:g.41633T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2354T>C MANE Select | ENSP00000269571.4:p.Leu785Pro | |
| ENST00000269571.9:c.2354T>C | ENSP00000269571.4:p.Leu785Pro | |
| ENST00000406381.6:c.2264T>C | ENSP00000385185.2:p.Leu755Pro | |
| ENST00000445658.6:c.1526T>C | ENSP00000404047.2:p.Leu509Pro | |
| ENST00000541774.5:c.2309T>C | ENSP00000446466.1:p.Leu770Pro | |
| ENST00000578373.5:c.*2144T>C | ENSP00000463427.1:n.*2144T>C | |
| ENST00000580074.1:c.460T>C | ||
| ENST00000583038.5:n.3488T>C | ||
| ENST00000584450.5:c.2354T>C | ENSP00000463714.1:p.Leu785Pro | |
| ENST00000584601.5:c.2264T>C | ENSP00000462438.1:p.Leu755Pro | |
| NM_001005862.2:c.2264T>C , LRG_724t1:c.2264T>C | NP_001005862.1:p.Leu755Pro | |
| NM_001289936.1:c.2309T>C , LRG_724t4:c.2309T>C | NP_001276865.1:p.Leu770Pro | |
| NM_001289937.1:c.2354T>C | NP_001276866.1:p.Leu785Pro | |
| NM_004448.3:c.2354T>C , LRG_724t2:c.2354T>C | NP_004439.2:p.Leu785Pro | |
| NR_110535.1:n.2678T>C | ||
| XM_024450641.1:c.2492T>C | XP_024306409.1:p.Leu831Pro | |
| XM_024450642.1:c.2447T>C | XP_024306410.1:p.Leu816Pro | |
| XM_024450643.1:c.2402T>C | XP_024306411.1:p.Leu801Pro | |
| NM_001005862.3:c.2264T>C | NP_001005862.1:p.Leu755Pro | |
| NM_001289936.2:c.2309T>C | NP_001276865.1:p.Leu770Pro | |
| NM_001289937.2:c.2354T>C | NP_001276866.1:p.Leu785Pro | |
| NM_001382782.1:c.2264T>C | NP_001369711.1:p.Leu755Pro | |
| NM_001382783.1:c.2264T>C | NP_001369712.1:p.Leu755Pro | |
| NM_001382784.1:c.2471T>C | NP_001369713.1:p.Leu824Pro | |
| NM_001382785.1:c.2456T>C | NP_001369714.1:p.Leu819Pro | |
| NM_001382786.1:c.2435T>C | NP_001369715.1:p.Leu812Pro | |
| NM_001382787.1:c.2429T>C | NP_001369716.1:p.Leu810Pro | |
| NM_001382788.1:c.2384T>C | NP_001369717.1:p.Leu795Pro | |
| NM_001382789.1:c.2375T>C | NP_001369718.1:p.Leu792Pro | |
| NM_001382790.1:c.2351T>C | NP_001369719.1:p.Leu784Pro | |
| NM_001382791.1:c.2345T>C | NP_001369720.1:p.Leu782Pro | |
| NM_001382792.1:c.2318T>C | NP_001369721.1:p.Leu773Pro | |
| NM_001382793.1:c.2312T>C | NP_001369722.1:p.Leu771Pro | |
| NM_001382794.1:c.2312T>C | NP_001369723.1:p.Leu771Pro | |
| NM_001382795.1:c.2306T>C | NP_001369724.1:p.Leu769Pro | |
| NM_001382796.1:c.2354T>C | NP_001369725.1:p.Leu785Pro | |
| NM_001382797.1:c.2255T>C | NP_001369726.1:p.Leu752Pro | |
| NM_001382798.1:c.2354T>C | NP_001369727.1:p.Leu785Pro | |
| NM_001382799.1:c.2174T>C | NP_001369728.1:p.Leu725Pro | |
| NM_001382800.1:c.2308-277T>C | NP_001369729.1:n.2308-277T>C | |
| NM_001382801.1:c.2306T>C | NP_001369730.1:p.Leu769Pro | |
| NM_001382802.1:c.2096T>C | NP_001369731.1:p.Leu699Pro | |
| NM_001382803.1:c.2312T>C | NP_001369732.1:p.Leu771Pro | |
| NM_001382804.1:c.1526T>C | NP_001369733.1:p.Leu509Pro | |
| NM_001382805.1:c.2208+1112T>C | NP_001369734.1:n.2208+1112T>C | |
| NM_001382806.1:c.1316T>C | NP_001369735.1:p.Leu439Pro | |
| NM_004448.4:c.2354T>C MANE Select | NP_004439.2:p.Leu785Pro | |
| NR_110535.2:n.2592T>C |