Linked Data
ClinVar Variation Id:
93019
dbSNP Id:
rs368312695
ExAC:
8:144993333 C / T
gnomAD v2:
8-144993333-C-T
gnomAD v3:
8-143919165-C-T
gnomAD v4:
8-143919165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143919165C>T , CM000670.2:g.143919165C>T | GRCh38 |
| NC_000008.10:g.144993333C>T , CM000670.1:g.144993333C>T | GRCh37 |
| NC_000008.9:g.145065321C>T | NCBI36 |
| NG_012492.1:g.62581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.10788G>A | ENSP00000437303.2:p.Val3596= | |
| ENST00000685198.1:c.10707G>A | ENSP00000510528.1:p.Val3569= | |
| ENST00000687971.1:c.10374G>A | ENSP00000510788.1:p.Val3458= | |
| ENST00000693060.1:c.10587G>A | ENSP00000510329.1:p.Val3529= | |
| ENST00000345136.8:c.10656G>A MANE Select | ENSP00000344848.3:p.Val3552= | |
| ENST00000527303.2:c.7356G>A | ENSP00000433982.2:p.Val2452= | |
| ENST00000322810.8:c.11067G>A | ENSP00000323856.4:p.Val3689= | |
| ENST00000345136.7:c.10656G>A | ENSP00000344848.3:p.Val3552= | |
| ENST00000354589.7:c.10656G>A | ENSP00000346602.3:p.Val3552= | |
| ENST00000354958.6:c.10590G>A | ENSP00000347044.2:p.Val3530= | |
| ENST00000356346.7:c.10614G>A MANE Plus Clinical | ENSP00000348702.3:p.Val3538= | |
| ENST00000357649.6:c.10668G>A | ENSP00000350277.2:p.Val3556= | |
| ENST00000398774.6:c.10560G>A | ENSP00000381756.2:p.Val3520= | |
| ENST00000436759.6:c.10737G>A | ENSP00000388180.2:p.Val3579= | |
| ENST00000527096.5:c.10725G>A | ENSP00000434583.1:p.Val3575= | |
| NM_000445.4:c.10737G>A | NP_000436.2:p.Val3579= | |
| NM_201378.3:c.10614G>A | NP_958780.1:p.Val3538= | |
| NM_201379.2:c.10590G>A | NP_958781.1:p.Val3530= | |
| NM_201380.3:c.11067G>A | NP_958782.1:p.Val3689= | |
| NM_201381.2:c.10560G>A | NP_958783.1:p.Val3520= | |
| NM_201382.3:c.10656G>A | NP_958784.1:p.Val3552= | |
| NM_201383.2:c.10668G>A | NP_958785.1:p.Val3556= | |
| NM_201384.2:c.10656G>A | NP_958786.1:p.Val3552= | |
| XM_005250976.2:c.11082G>A | XP_005251033.1:p.Val3694= | |
| XM_005250978.2:c.10683G>A | XP_005251035.1:p.Val3561= | |
| XM_005250979.3:c.10671G>A | XP_005251036.1:p.Val3557= | |
| XM_005250980.3:c.10671G>A | XP_005251037.1:p.Val3557= | |
| XM_005250981.2:c.10629G>A | XP_005251038.1:p.Val3543= | |
| XM_005250982.2:c.10605G>A | XP_005251039.1:p.Val3535= | |
| XM_005250983.2:c.10587G>A | XP_005251040.1:p.Val3529= | |
| XM_005250984.3:c.10575G>A | XP_005251041.1:p.Val3525= | |
| XM_006716588.2:c.10752G>A | XP_006716651.1:p.Val3584= | |
| XM_006716589.2:c.10602G>A | XP_006716652.1:p.Val3534= | |
| XM_006716590.2:c.10602G>A | XP_006716653.1:p.Val3534= | |
| XM_011517130.1:c.10671G>A | XP_011515432.1:p.Val3557= | |
| XM_011517131.1:c.10587G>A | XP_011515433.1:p.Val3529= | |
| XM_011517132.1:c.7302G>A | XP_011515434.1:p.Val2434= | |
| XM_005250976.4:c.11082G>A | XP_005251033.1:p.Val3694= | |
| XM_005250978.3:c.10683G>A | XP_005251035.1:p.Val3561= | |
| XM_005250979.4:c.10671G>A | XP_005251036.1:p.Val3557= | |
| XM_005250980.4:c.10671G>A | XP_005251037.1:p.Val3557= | |
| XM_005250981.3:c.10629G>A | XP_005251038.1:p.Val3543= | |
| XM_005250982.4:c.10605G>A | XP_005251039.1:p.Val3535= | |
| XM_005250984.5:c.10575G>A | XP_005251041.1:p.Val3525= | |
| XM_006716588.3:c.10752G>A | XP_006716651.1:p.Val3584= | |
| XM_006716590.3:c.10602G>A | XP_006716653.1:p.Val3534= | |
| XM_011517130.2:c.10671G>A | XP_011515432.1:p.Val3557= | |
| XM_011517131.2:c.10587G>A | XP_011515433.1:p.Val3529= | |
| XM_011517132.2:c.7302G>A | XP_011515434.1:p.Val2434= | |
| NM_000445.5:c.10737G>A | NP_000436.2:p.Val3579= | |
| NM_201378.4:c.10614G>A MANE Plus Clinical | NP_958780.1:p.Val3538= | |
| NM_201379.3:c.10590G>A | NP_958781.1:p.Val3530= | |
| NM_201380.4:c.11067G>A | NP_958782.1:p.Val3689= | |
| NM_201381.3:c.10560G>A | NP_958783.1:p.Val3520= | |
| NM_201382.4:c.10656G>A | NP_958784.1:p.Val3552= | |
| NM_201383.3:c.10668G>A | NP_958785.1:p.Val3556= | |
| NM_201384.3:c.10656G>A MANE Select | NP_958786.1:p.Val3552= |