Linked Data
ClinVar Variation Id:
281833
dbSNP Id:
rs782025071
ExAC:
8:144992145 C / T
gnomAD v2:
8-144992145-C-T
gnomAD v3:
8-143917977-C-T
gnomAD v4:
8-143917977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143917977C>T , CM000670.2:g.143917977C>T | GRCh38 |
| NC_000008.10:g.144992145C>T , CM000670.1:g.144992145C>T | GRCh37 |
| NC_000008.9:g.145064133C>T | NCBI36 |
| NG_012492.1:g.63769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.11976G>A | ENSP00000437303.2:p.Ser3992= | |
| ENST00000685198.1:c.11895G>A | ENSP00000510528.1:p.Ser3965= | |
| ENST00000687971.1:c.11562G>A | ENSP00000510788.1:p.Ser3854= | |
| ENST00000693060.1:c.11775G>A | ENSP00000510329.1:p.Ser3925= | |
| ENST00000345136.8:c.11844G>A MANE Select | ENSP00000344848.3:p.Ser3948= | |
| ENST00000527303.2:c.8544G>A | ENSP00000433982.2:p.Ser2848= | |
| ENST00000322810.8:c.12255G>A | ENSP00000323856.4:p.Ser4085= | |
| ENST00000345136.7:c.11844G>A | ENSP00000344848.3:p.Ser3948= | |
| ENST00000354589.7:c.11844G>A | ENSP00000346602.3:p.Ser3948= | |
| ENST00000354958.6:c.11778G>A | ENSP00000347044.2:p.Ser3926= | |
| ENST00000356346.7:c.11802G>A MANE Plus Clinical | ENSP00000348702.3:p.Ser3934= | |
| ENST00000357649.6:c.11856G>A | ENSP00000350277.2:p.Ser3952= | |
| ENST00000398774.6:c.11748G>A | ENSP00000381756.2:p.Ser3916= | |
| ENST00000436759.6:c.11925G>A | ENSP00000388180.2:p.Ser3975= | |
| ENST00000527096.5:c.11913G>A | ENSP00000434583.1:p.Ser3971= | |
| NM_000445.4:c.11925G>A | NP_000436.2:p.Ser3975= | |
| NM_201378.3:c.11802G>A | NP_958780.1:p.Ser3934= | |
| NM_201379.2:c.11778G>A | NP_958781.1:p.Ser3926= | |
| NM_201380.3:c.12255G>A | NP_958782.1:p.Ser4085= | |
| NM_201381.2:c.11748G>A | NP_958783.1:p.Ser3916= | |
| NM_201382.3:c.11844G>A | NP_958784.1:p.Ser3948= | |
| NM_201383.2:c.11856G>A | NP_958785.1:p.Ser3952= | |
| NM_201384.2:c.11844G>A | NP_958786.1:p.Ser3948= | |
| XM_005250976.2:c.12270G>A | XP_005251033.1:p.Ser4090= | |
| XM_005250978.2:c.11871G>A | XP_005251035.1:p.Ser3957= | |
| XM_005250979.3:c.11859G>A | XP_005251036.1:p.Ser3953= | |
| XM_005250980.3:c.11859G>A | XP_005251037.1:p.Ser3953= | |
| XM_005250981.2:c.11817G>A | XP_005251038.1:p.Ser3939= | |
| XM_005250982.2:c.11793G>A | XP_005251039.1:p.Ser3931= | |
| XM_005250983.2:c.11775G>A | XP_005251040.1:p.Ser3925= | |
| XM_005250984.3:c.11763G>A | XP_005251041.1:p.Ser3921= | |
| XM_006716588.2:c.11940G>A | XP_006716651.1:p.Ser3980= | |
| XM_006716589.2:c.11790G>A | XP_006716652.1:p.Ser3930= | |
| XM_006716590.2:c.11790G>A | XP_006716653.1:p.Ser3930= | |
| XM_011517130.1:c.11859G>A | XP_011515432.1:p.Ser3953= | |
| XM_011517131.1:c.11775G>A | XP_011515433.1:p.Ser3925= | |
| XM_011517132.1:c.8490G>A | XP_011515434.1:p.Ser2830= | |
| XM_005250976.4:c.12270G>A | XP_005251033.1:p.Ser4090= | |
| XM_005250978.3:c.11871G>A | XP_005251035.1:p.Ser3957= | |
| XM_005250979.4:c.11859G>A | XP_005251036.1:p.Ser3953= | |
| XM_005250980.4:c.11859G>A | XP_005251037.1:p.Ser3953= | |
| XM_005250981.3:c.11817G>A | XP_005251038.1:p.Ser3939= | |
| XM_005250982.4:c.11793G>A | XP_005251039.1:p.Ser3931= | |
| XM_005250984.5:c.11763G>A | XP_005251041.1:p.Ser3921= | |
| XM_006716588.3:c.11940G>A | XP_006716651.1:p.Ser3980= | |
| XM_006716590.3:c.11790G>A | XP_006716653.1:p.Ser3930= | |
| XM_011517130.2:c.11859G>A | XP_011515432.1:p.Ser3953= | |
| XM_011517131.2:c.11775G>A | XP_011515433.1:p.Ser3925= | |
| XM_011517132.2:c.8490G>A | XP_011515434.1:p.Ser2830= | |
| NM_000445.5:c.11925G>A | NP_000436.2:p.Ser3975= | |
| NM_201378.4:c.11802G>A MANE Plus Clinical | NP_958780.1:p.Ser3934= | |
| NM_201379.3:c.11778G>A | NP_958781.1:p.Ser3926= | |
| NM_201380.4:c.12255G>A | NP_958782.1:p.Ser4085= | |
| NM_201381.3:c.11748G>A | NP_958783.1:p.Ser3916= | |
| NM_201382.4:c.11844G>A | NP_958784.1:p.Ser3948= | |
| NM_201383.3:c.11856G>A | NP_958785.1:p.Ser3952= | |
| NM_201384.3:c.11844G>A MANE Select | NP_958786.1:p.Ser3948= |