Linked Data
ClinVar Variation Id:
4728
ClinVar RCV Id:
RCV000004993
RCV000036847
RCV000239669
RCV000493600
RCV000769278
RCV002247249
RCV003162208
RCV003934799
dbSNP Id:
rs121908334
ExAC:
10:88446975 C / T
gnomAD v2:
10-88446975-C-T
gnomAD v4:
10-86687218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86687218C>T , CM000672.2:g.86687218C>T | GRCh38 |
| NC_000010.10:g.88446975C>T , CM000672.1:g.88446975C>T | GRCh37 |
| NC_000010.9:g.88436955C>T | NCBI36 |
| NG_008876.1:g.23655C>T , LRG_385:g.23655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443292.2:c.2199-4678C>T | ENSP00000393132.2:n.2199-4678C>T | |
| ENST00000685347.1:n.2161-4678C>T | ||
| ENST00000687856.1:c.322-4678C>T | ENSP00000510221.1:n.322-4678C>T | |
| ENST00000688001.1:c.690-4678C>T | ENSP00000508987.1:n.690-4678C>T | |
| ENST00000688678.1:c.690-4678C>T | ENSP00000510048.1:n.690-4678C>T | |
| ENST00000688785.1:c.344+1518C>T | ENSP00000509572.1:n.344+1518C>T | |
| ENST00000689296.1:c.690-4678C>T | ENSP00000510609.1:n.690-4678C>T | |
| ENST00000689740.1:c.494C>T | ENSP00000510300.1:p.Ala165Val | |
| ENST00000691462.1:c.344+1518C>T | ENSP00000509930.1:n.344+1518C>T | |
| ENST00000692941.1:n.2782-4678C>T | ||
| ENST00000693680.1:c.494C>T | ENSP00000509539.1:p.Ala165Val | |
| ENST00000263066.11:c.494C>T MANE Plus Clinical | ENSP00000263066.7:p.Ala165Val | |
| ENST00000361373.9:c.690-4678C>T MANE Select | ENSP00000355296.3:n.690-4678C>T | |
| ENST00000372066.8:c.494C>T | ENSP00000361136.3:p.Ala165Val | |
| ENST00000429277.7:c.494C>T | ENSP00000401437.3:p.Ala165Val | |
| ENST00000542786.2:c.862C>T | ENSP00000438866.1:n.862C>T | |
| ENST00000623056.4:c.839C>T | ENSP00000485500.1:p.Ala280Val | |
| ENST00000263066.10:c.494C>T | ENSP00000263066.6:p.Ala165Val | |
| ENST00000361373.8:c.690-4678C>T | ENSP00000355296.3:n.690-4678C>T | |
| ENST00000372056.8:c.839C>T | ENSP00000361126.4:p.Ala280Val | |
| ENST00000372066.7:c.494C>T | ENSP00000361136.3:p.Ala165Val | |
| ENST00000429277.6:c.839C>T | ENSP00000401437.2:p.Ala280Val | |
| ENST00000542786.1:c.862C>T | ENSP00000438866.1:n.862C>T | |
| ENST00000623007.3:c.690-4678C>T | ENSP00000485389.1:n.690-4678C>T | |
| ENST00000623056.3:c.839C>T | ENSP00000485500.1:p.Ala280Val | |
| NM_001080114.1:c.494C>T | NP_001073583.1:p.Ala165Val | |
| NM_001080115.1:c.690-4678C>T | NP_001073584.1:n.690-4678C>T | |
| NM_001080116.1:c.494C>T , LRG_385t2:c.494C>T | NP_001073585.1:p.Ala165Val | |
| NM_001171610.1:c.839C>T | NP_001165081.1:p.Ala280Val | |
| NM_001171611.1:c.839C>T | NP_001165082.1:p.Ala280Val | |
| NM_007078.2:c.690-4678C>T , LRG_385t1:c.690-4678C>T | NP_009009.1:n.690-4678C>T | |
| XM_005269464.3:c.690-4678C>T | XP_005269521.1:n.690-4678C>T | |
| XM_005269466.3:c.690-4678C>T | XP_005269523.1:n.690-4678C>T | |
| XM_005269468.3:c.690-4678C>T | XP_005269525.1:n.690-4678C>T | |
| XM_011539184.1:c.839C>T | XP_011537486.1:p.Ala280Val | |
| XM_011539185.1:c.839C>T | XP_011537487.1:p.Ala280Val | |
| XM_011539186.1:c.839C>T | XP_011537488.1:p.Ala280Val | |
| XM_011539187.1:c.839C>T | XP_011537489.1:p.Ala280Val | |
| XM_011539188.1:c.690-4678C>T | XP_011537490.1:n.690-4678C>T | |
| XM_011539189.1:c.494C>T | XP_011537491.1:p.Ala165Val | |
| XM_011539190.1:c.494C>T | XP_011537492.1:p.Ala165Val | |
| XM_011539191.1:c.344+1518C>T | XP_011537493.1:n.344+1518C>T | |
| XM_011539192.1:c.344+1518C>T | XP_011537494.1:n.344+1518C>T | |
| XM_011539193.1:c.-151-4678C>T | XP_011537495.1:n.-151-4678C>T | |
| XM_011539194.1:c.-151-4678C>T | XP_011537496.1:n.-151-4678C>T | |
| XM_011539195.1:c.839C>T | XP_011537497.1:p.Ala280Val | |
| XM_005269464.4:c.690-4678C>T | XP_005269521.1:n.690-4678C>T | |
| XM_005269466.4:c.690-4678C>T | XP_005269523.1:n.690-4678C>T | |
| XM_005269468.4:c.690-4678C>T | XP_005269525.1:n.690-4678C>T | |
| XM_011539184.2:c.839C>T | XP_011537486.1:p.Ala280Val | |
| XM_011539185.2:c.839C>T | XP_011537487.1:p.Ala280Val | |
| XM_011539186.2:c.839C>T | XP_011537488.1:p.Ala280Val | |
| XM_011539187.2:c.839C>T | XP_011537489.1:p.Ala280Val | |
| XM_011539188.2:c.690-4678C>T | XP_011537490.1:n.690-4678C>T | |
| XM_011539190.2:c.494C>T | XP_011537492.1:p.Ala165Val | |
| XM_011539191.2:c.344+1518C>T | XP_011537493.1:n.344+1518C>T | |
| XM_011539195.2:c.839C>T | XP_011537497.1:p.Ala280Val | |
| XM_017015606.1:c.690-4678C>T | XP_016871095.1:n.690-4678C>T | |
| XM_017015608.1:c.690-4678C>T | XP_016871097.1:n.690-4678C>T | |
| XM_017015609.1:c.494C>T | XP_016871098.1:p.Ala165Val | |
| XM_024447785.1:c.494C>T | XP_024303553.1:p.Ala165Val | |
| XM_024447786.1:c.494C>T | XP_024303554.1:p.Ala165Val | |
| XM_024447787.1:c.494C>T | XP_024303555.1:p.Ala165Val | |
| NM_001080114.2:c.494C>T | NP_001073583.1:p.Ala165Val | |
| NM_001080115.2:c.690-4678C>T | NP_001073584.1:n.690-4678C>T | |
| NM_001171610.2:c.839C>T | NP_001165081.1:p.Ala280Val | |
| NM_001171611.2:c.839C>T | NP_001165082.1:p.Ala280Val | |
| NM_001368063.1:c.690-4678C>T | NP_001354992.1:n.690-4678C>T | |
| NM_001368064.1:c.690-4678C>T | NP_001354993.1:n.690-4678C>T | |
| NM_001368065.1:c.690-4678C>T | NP_001354994.1:n.690-4678C>T | |
| NM_001368066.1:c.494C>T | NP_001354995.1:p.Ala165Val | |
| NM_001368067.1:c.494C>T MANE Plus Clinical | NP_001354996.1:p.Ala165Val | |
| NM_001368068.1:c.494C>T | NP_001354997.1:p.Ala165Val | |
| NM_007078.3:c.690-4678C>T MANE Select | NP_009009.1:n.690-4678C>T |