Linked Data
ClinVar Variation Id:
386367
dbSNP Id:
rs201654895
ExAC:
8:144992450 C / T
gnomAD v2:
8-144992450-C-T
gnomAD v3:
8-143918282-C-T
gnomAD v4:
8-143918282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143918282C>T , CM000670.2:g.143918282C>T | GRCh38 |
| NC_000008.10:g.144992450C>T , CM000670.1:g.144992450C>T | GRCh37 |
| NC_000008.9:g.145064438C>T | NCBI36 |
| NG_012492.1:g.63464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11671G>A | ENSP00000437303.2:p.Val3891Met | |
| ENST00000685198.1:c.11590G>A | ENSP00000510528.1:p.Val3864Met | |
| ENST00000687971.1:c.11257G>A | ENSP00000510788.1:p.Val3753Met | |
| ENST00000693060.1:c.11470G>A | ENSP00000510329.1:p.Val3824Met | |
| ENST00000345136.8:c.11539G>A MANE Select | ENSP00000344848.3:p.Val3847Met | |
| ENST00000527303.2:c.8239G>A | ENSP00000433982.2:p.Val2747Met | |
| ENST00000322810.8:c.11950G>A | ENSP00000323856.4:p.Val3984Met | |
| ENST00000345136.7:c.11539G>A | ENSP00000344848.3:p.Val3847Met | |
| ENST00000354589.7:c.11539G>A | ENSP00000346602.3:p.Val3847Met | |
| ENST00000354958.6:c.11473G>A | ENSP00000347044.2:p.Val3825Met | |
| ENST00000356346.7:c.11497G>A MANE Plus Clinical | ENSP00000348702.3:p.Val3833Met | |
| ENST00000357649.6:c.11551G>A | ENSP00000350277.2:p.Val3851Met | |
| ENST00000398774.6:c.11443G>A | ENSP00000381756.2:p.Val3815Met | |
| ENST00000436759.6:c.11620G>A | ENSP00000388180.2:p.Val3874Met | |
| ENST00000527096.5:c.11608G>A | ENSP00000434583.1:p.Val3870Met | |
| NM_000445.4:c.11620G>A | NP_000436.2:p.Val3874Met | |
| NM_201378.3:c.11497G>A | NP_958780.1:p.Val3833Met | |
| NM_201379.2:c.11473G>A | NP_958781.1:p.Val3825Met | |
| NM_201380.3:c.11950G>A | NP_958782.1:p.Val3984Met | |
| NM_201381.2:c.11443G>A | NP_958783.1:p.Val3815Met | |
| NM_201382.3:c.11539G>A | NP_958784.1:p.Val3847Met | |
| NM_201383.2:c.11551G>A | NP_958785.1:p.Val3851Met | |
| NM_201384.2:c.11539G>A | NP_958786.1:p.Val3847Met | |
| XM_005250976.2:c.11965G>A | XP_005251033.1:p.Val3989Met | |
| XM_005250978.2:c.11566G>A | XP_005251035.1:p.Val3856Met | |
| XM_005250979.3:c.11554G>A | XP_005251036.1:p.Val3852Met | |
| XM_005250980.3:c.11554G>A | XP_005251037.1:p.Val3852Met | |
| XM_005250981.2:c.11512G>A | XP_005251038.1:p.Val3838Met | |
| XM_005250982.2:c.11488G>A | XP_005251039.1:p.Val3830Met | |
| XM_005250983.2:c.11470G>A | XP_005251040.1:p.Val3824Met | |
| XM_005250984.3:c.11458G>A | XP_005251041.1:p.Val3820Met | |
| XM_006716588.2:c.11635G>A | XP_006716651.1:p.Val3879Met | |
| XM_006716589.2:c.11485G>A | XP_006716652.1:p.Val3829Met | |
| XM_006716590.2:c.11485G>A | XP_006716653.1:p.Val3829Met | |
| XM_011517130.1:c.11554G>A | XP_011515432.1:p.Val3852Met | |
| XM_011517131.1:c.11470G>A | XP_011515433.1:p.Val3824Met | |
| XM_011517132.1:c.8185G>A | XP_011515434.1:p.Val2729Met | |
| XM_005250976.4:c.11965G>A | XP_005251033.1:p.Val3989Met | |
| XM_005250978.3:c.11566G>A | XP_005251035.1:p.Val3856Met | |
| XM_005250979.4:c.11554G>A | XP_005251036.1:p.Val3852Met | |
| XM_005250980.4:c.11554G>A | XP_005251037.1:p.Val3852Met | |
| XM_005250981.3:c.11512G>A | XP_005251038.1:p.Val3838Met | |
| XM_005250982.4:c.11488G>A | XP_005251039.1:p.Val3830Met | |
| XM_005250984.5:c.11458G>A | XP_005251041.1:p.Val3820Met | |
| XM_006716588.3:c.11635G>A | XP_006716651.1:p.Val3879Met | |
| XM_006716590.3:c.11485G>A | XP_006716653.1:p.Val3829Met | |
| XM_011517130.2:c.11554G>A | XP_011515432.1:p.Val3852Met | |
| XM_011517131.2:c.11470G>A | XP_011515433.1:p.Val3824Met | |
| XM_011517132.2:c.8185G>A | XP_011515434.1:p.Val2729Met | |
| NM_000445.5:c.11620G>A | NP_000436.2:p.Val3874Met | |
| NM_201378.4:c.11497G>A MANE Plus Clinical | NP_958780.1:p.Val3833Met | |
| NM_201379.3:c.11473G>A | NP_958781.1:p.Val3825Met | |
| NM_201380.4:c.11950G>A | NP_958782.1:p.Val3984Met | |
| NM_201381.3:c.11443G>A | NP_958783.1:p.Val3815Met | |
| NM_201382.4:c.11539G>A | NP_958784.1:p.Val3847Met | |
| NM_201383.3:c.11551G>A | NP_958785.1:p.Val3851Met | |
| NM_201384.3:c.11539G>A MANE Select | NP_958786.1:p.Val3847Met |