Linked Data
ClinVar Variation Id:
93025
ClinVar RCV Id:
RCV000078840
RCV000992636
RCV001516975
RCV001789034
RCV001789030
RCV001789031
RCV001789032
RCV001789033
dbSNP Id:
rs6558406
ExAC:
8:144992103 T / C
gnomAD v2:
8-144992103-T-C
gnomAD v3:
8-143917935-T-C
gnomAD v4:
8-143917935-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143917935T>C , CM000670.2:g.143917935T>C | GRCh38 |
| NC_000008.10:g.144992103T>C , CM000670.1:g.144992103T>C | GRCh37 |
| NC_000008.9:g.145064091T>C | NCBI36 |
| NG_012492.1:g.63811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.12018A>G | ENSP00000437303.2:p.Thr4006= | |
| ENST00000685198.1:c.11937A>G | ENSP00000510528.1:p.Thr3979= | |
| ENST00000687971.1:c.11604A>G | ENSP00000510788.1:p.Thr3868= | |
| ENST00000693060.1:c.11817A>G | ENSP00000510329.1:p.Thr3939= | |
| ENST00000345136.8:c.11886A>G MANE Select | ENSP00000344848.3:p.Thr3962= | |
| ENST00000527303.2:c.8586A>G | ENSP00000433982.2:p.Thr2862= | |
| ENST00000322810.8:c.12297A>G | ENSP00000323856.4:p.Thr4099= | |
| ENST00000345136.7:c.11886A>G | ENSP00000344848.3:p.Thr3962= | |
| ENST00000354589.7:c.11886A>G | ENSP00000346602.3:p.Thr3962= | |
| ENST00000354958.6:c.11820A>G | ENSP00000347044.2:p.Thr3940= | |
| ENST00000356346.7:c.11844A>G MANE Plus Clinical | ENSP00000348702.3:p.Thr3948= | |
| ENST00000357649.6:c.11898A>G | ENSP00000350277.2:p.Thr3966= | |
| ENST00000398774.6:c.11790A>G | ENSP00000381756.2:p.Thr3930= | |
| ENST00000436759.6:c.11967A>G | ENSP00000388180.2:p.Thr3989= | |
| ENST00000527096.5:c.11955A>G | ENSP00000434583.1:p.Thr3985= | |
| NM_000445.4:c.11967A>G | NP_000436.2:p.Thr3989= | |
| NM_201378.3:c.11844A>G | NP_958780.1:p.Thr3948= | |
| NM_201379.2:c.11820A>G | NP_958781.1:p.Thr3940= | |
| NM_201380.3:c.12297A>G | NP_958782.1:p.Thr4099= | |
| NM_201381.2:c.11790A>G | NP_958783.1:p.Thr3930= | |
| NM_201382.3:c.11886A>G | NP_958784.1:p.Thr3962= | |
| NM_201383.2:c.11898A>G | NP_958785.1:p.Thr3966= | |
| NM_201384.2:c.11886A>G | NP_958786.1:p.Thr3962= | |
| XM_005250976.2:c.12312A>G | XP_005251033.1:p.Thr4104= | |
| XM_005250978.2:c.11913A>G | XP_005251035.1:p.Thr3971= | |
| XM_005250979.3:c.11901A>G | XP_005251036.1:p.Thr3967= | |
| XM_005250980.3:c.11901A>G | XP_005251037.1:p.Thr3967= | |
| XM_005250981.2:c.11859A>G | XP_005251038.1:p.Thr3953= | |
| XM_005250982.2:c.11835A>G | XP_005251039.1:p.Thr3945= | |
| XM_005250983.2:c.11817A>G | XP_005251040.1:p.Thr3939= | |
| XM_005250984.3:c.11805A>G | XP_005251041.1:p.Thr3935= | |
| XM_006716588.2:c.11982A>G | XP_006716651.1:p.Thr3994= | |
| XM_006716589.2:c.11832A>G | XP_006716652.1:p.Thr3944= | |
| XM_006716590.2:c.11832A>G | XP_006716653.1:p.Thr3944= | |
| XM_011517130.1:c.11901A>G | XP_011515432.1:p.Thr3967= | |
| XM_011517131.1:c.11817A>G | XP_011515433.1:p.Thr3939= | |
| XM_011517132.1:c.8532A>G | XP_011515434.1:p.Thr2844= | |
| XM_005250976.4:c.12312A>G | XP_005251033.1:p.Thr4104= | |
| XM_005250978.3:c.11913A>G | XP_005251035.1:p.Thr3971= | |
| XM_005250979.4:c.11901A>G | XP_005251036.1:p.Thr3967= | |
| XM_005250980.4:c.11901A>G | XP_005251037.1:p.Thr3967= | |
| XM_005250981.3:c.11859A>G | XP_005251038.1:p.Thr3953= | |
| XM_005250982.4:c.11835A>G | XP_005251039.1:p.Thr3945= | |
| XM_005250984.5:c.11805A>G | XP_005251041.1:p.Thr3935= | |
| XM_006716588.3:c.11982A>G | XP_006716651.1:p.Thr3994= | |
| XM_006716590.3:c.11832A>G | XP_006716653.1:p.Thr3944= | |
| XM_011517130.2:c.11901A>G | XP_011515432.1:p.Thr3967= | |
| XM_011517131.2:c.11817A>G | XP_011515433.1:p.Thr3939= | |
| XM_011517132.2:c.8532A>G | XP_011515434.1:p.Thr2844= | |
| NM_000445.5:c.11967A>G | NP_000436.2:p.Thr3989= | |
| NM_201378.4:c.11844A>G MANE Plus Clinical | NP_958780.1:p.Thr3948= | |
| NM_201379.3:c.11820A>G | NP_958781.1:p.Thr3940= | |
| NM_201380.4:c.12297A>G | NP_958782.1:p.Thr4099= | |
| NM_201381.3:c.11790A>G | NP_958783.1:p.Thr3930= | |
| NM_201382.4:c.11886A>G | NP_958784.1:p.Thr3962= | |
| NM_201383.3:c.11898A>G | NP_958785.1:p.Thr3966= | |
| NM_201384.3:c.11886A>G MANE Select | NP_958786.1:p.Thr3962= |