Linked Data
ClinVar Variation Id:
376035
ClinVar RCV Id:
RCV000418445
RCV000417433
RCV000427447
RCV000428572
RCV000429126
RCV000435324
RCV000435086
dbSNP Id:
rs121913470
CIViC:
CA16602502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39723967T>C , CM000679.2:g.39723967T>C | GRCh38 |
| NC_000017.10:g.37880220T>C , CM000679.1:g.37880220T>C | GRCh37 |
| NC_000017.9:g.35133746T>C | NCBI36 |
| NG_007503.1:g.40828T>C , LRG_724:g.40828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2264T>C MANE Select | ENSP00000269571.4:p.Leu755Ser | |
| ENST00000269571.9:c.2264T>C | ENSP00000269571.4:p.Leu755Ser | |
| ENST00000406381.6:c.2174T>C | ENSP00000385185.2:p.Leu725Ser | |
| ENST00000445658.6:c.1436T>C | ENSP00000404047.2:p.Leu479Ser | |
| ENST00000541774.5:c.2219T>C | ENSP00000446466.1:p.Leu740Ser | |
| ENST00000578373.5:c.*2054T>C | ENSP00000463427.1:n.*2054T>C | |
| ENST00000578630.1:n.873T>C | ||
| ENST00000580074.1:c.370T>C | ||
| ENST00000583038.5:n.3398T>C | ||
| ENST00000584450.5:c.2264T>C | ENSP00000463714.1:p.Leu755Ser | |
| ENST00000584601.5:c.2174T>C | ENSP00000462438.1:p.Leu725Ser | |
| NM_001005862.2:c.2174T>C , LRG_724t1:c.2174T>C | NP_001005862.1:p.Leu725Ser | |
| NM_001289936.1:c.2219T>C , LRG_724t4:c.2219T>C | NP_001276865.1:p.Leu740Ser | |
| NM_001289937.1:c.2264T>C | NP_001276866.1:p.Leu755Ser | |
| NM_004448.3:c.2264T>C , LRG_724t2:c.2264T>C | NP_004439.2:p.Leu755Ser | |
| NR_110535.1:n.2588T>C | ||
| XM_024450641.1:c.2402T>C | XP_024306409.1:p.Leu801Ser | |
| XM_024450642.1:c.2357T>C | XP_024306410.1:p.Leu786Ser | |
| XM_024450643.1:c.2312T>C | XP_024306411.1:p.Leu771Ser | |
| NM_001005862.3:c.2174T>C | NP_001005862.1:p.Leu725Ser | |
| NM_001289936.2:c.2219T>C | NP_001276865.1:p.Leu740Ser | |
| NM_001289937.2:c.2264T>C | NP_001276866.1:p.Leu755Ser | |
| NM_001382782.1:c.2174T>C | NP_001369711.1:p.Leu725Ser | |
| NM_001382783.1:c.2174T>C | NP_001369712.1:p.Leu725Ser | |
| NM_001382784.1:c.2381T>C | NP_001369713.1:p.Leu794Ser | |
| NM_001382785.1:c.2366T>C | NP_001369714.1:p.Leu789Ser | |
| NM_001382786.1:c.2345T>C | NP_001369715.1:p.Leu782Ser | |
| NM_001382787.1:c.2339T>C | NP_001369716.1:p.Leu780Ser | |
| NM_001382788.1:c.2294T>C | NP_001369717.1:p.Leu765Ser | |
| NM_001382789.1:c.2285T>C | NP_001369718.1:p.Leu762Ser | |
| NM_001382790.1:c.2261T>C | NP_001369719.1:p.Leu754Ser | |
| NM_001382791.1:c.2255T>C | NP_001369720.1:p.Leu752Ser | |
| NM_001382792.1:c.2228T>C | NP_001369721.1:p.Leu743Ser | |
| NM_001382793.1:c.2222T>C | NP_001369722.1:p.Leu741Ser | |
| NM_001382794.1:c.2222T>C | NP_001369723.1:p.Leu741Ser | |
| NM_001382795.1:c.2216T>C | NP_001369724.1:p.Leu739Ser | |
| NM_001382796.1:c.2264T>C | NP_001369725.1:p.Leu755Ser | |
| NM_001382797.1:c.2208+307T>C | NP_001369726.1:n.2208+307T>C | |
| NM_001382798.1:c.2264T>C | NP_001369727.1:p.Leu755Ser | |
| NM_001382799.1:c.2084T>C | NP_001369728.1:p.Leu695Ser | |
| NM_001382800.1:c.2264T>C | NP_001369729.1:p.Leu755Ser | |
| NM_001382801.1:c.2216T>C | NP_001369730.1:p.Leu739Ser | |
| NM_001382802.1:c.2006T>C | NP_001369731.1:p.Leu669Ser | |
| NM_001382803.1:c.2222T>C | NP_001369732.1:p.Leu741Ser | |
| NM_001382804.1:c.1436T>C | NP_001369733.1:p.Leu479Ser | |
| NM_001382805.1:c.2208+307T>C | NP_001369734.1:n.2208+307T>C | |
| NM_001382806.1:c.1226T>C | NP_001369735.1:p.Leu409Ser | |
| NM_004448.4:c.2264T>C MANE Select | NP_004439.2:p.Leu755Ser | |
| NR_110535.2:n.2502T>C |