Linked Data
ClinVar Variation Id:
93017
dbSNP Id:
rs201765507
ExAC:
8:144993572 C / T
gnomAD v2:
8-144993572-C-T
gnomAD v3:
8-143919404-C-T
gnomAD v4:
8-143919404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143919404C>T , CM000670.2:g.143919404C>T | GRCh38 |
| NC_000008.10:g.144993572C>T , CM000670.1:g.144993572C>T | GRCh37 |
| NC_000008.9:g.145065560C>T | NCBI36 |
| NG_012492.1:g.62342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.10549G>A | ENSP00000437303.2:p.Gly3517Ser | |
| ENST00000685198.1:c.10468G>A | ENSP00000510528.1:p.Gly3490Ser | |
| ENST00000687971.1:c.10135G>A | ENSP00000510788.1:p.Gly3379Ser | |
| ENST00000693060.1:c.10348G>A | ENSP00000510329.1:p.Gly3450Ser | |
| ENST00000345136.8:c.10417G>A MANE Select | ENSP00000344848.3:p.Gly3473Ser | |
| ENST00000527303.2:c.7117G>A | ENSP00000433982.2:p.Gly2373Ser | |
| ENST00000322810.8:c.10828G>A | ENSP00000323856.4:p.Gly3610Ser | |
| ENST00000345136.7:c.10417G>A | ENSP00000344848.3:p.Gly3473Ser | |
| ENST00000354589.7:c.10417G>A | ENSP00000346602.3:p.Gly3473Ser | |
| ENST00000354958.6:c.10351G>A | ENSP00000347044.2:p.Gly3451Ser | |
| ENST00000356346.7:c.10375G>A MANE Plus Clinical | ENSP00000348702.3:p.Gly3459Ser | |
| ENST00000357649.6:c.10429G>A | ENSP00000350277.2:p.Gly3477Ser | |
| ENST00000398774.6:c.10321G>A | ENSP00000381756.2:p.Gly3441Ser | |
| ENST00000436759.6:c.10498G>A | ENSP00000388180.2:p.Gly3500Ser | |
| ENST00000527096.5:c.10486G>A | ENSP00000434583.1:p.Gly3496Ser | |
| NM_000445.4:c.10498G>A | NP_000436.2:p.Gly3500Ser | |
| NM_201378.3:c.10375G>A | NP_958780.1:p.Gly3459Ser | |
| NM_201379.2:c.10351G>A | NP_958781.1:p.Gly3451Ser | |
| NM_201380.3:c.10828G>A | NP_958782.1:p.Gly3610Ser | |
| NM_201381.2:c.10321G>A | NP_958783.1:p.Gly3441Ser | |
| NM_201382.3:c.10417G>A | NP_958784.1:p.Gly3473Ser | |
| NM_201383.2:c.10429G>A | NP_958785.1:p.Gly3477Ser | |
| NM_201384.2:c.10417G>A | NP_958786.1:p.Gly3473Ser | |
| XM_005250976.2:c.10843G>A | XP_005251033.1:p.Gly3615Ser | |
| XM_005250978.2:c.10444G>A | XP_005251035.1:p.Gly3482Ser | |
| XM_005250979.3:c.10432G>A | XP_005251036.1:p.Gly3478Ser | |
| XM_005250980.3:c.10432G>A | XP_005251037.1:p.Gly3478Ser | |
| XM_005250981.2:c.10390G>A | XP_005251038.1:p.Gly3464Ser | |
| XM_005250982.2:c.10366G>A | XP_005251039.1:p.Gly3456Ser | |
| XM_005250983.2:c.10348G>A | XP_005251040.1:p.Gly3450Ser | |
| XM_005250984.3:c.10336G>A | XP_005251041.1:p.Gly3446Ser | |
| XM_006716588.2:c.10513G>A | XP_006716651.1:p.Gly3505Ser | |
| XM_006716589.2:c.10363G>A | XP_006716652.1:p.Gly3455Ser | |
| XM_006716590.2:c.10363G>A | XP_006716653.1:p.Gly3455Ser | |
| XM_011517130.1:c.10432G>A | XP_011515432.1:p.Gly3478Ser | |
| XM_011517131.1:c.10348G>A | XP_011515433.1:p.Gly3450Ser | |
| XM_011517132.1:c.7063G>A | XP_011515434.1:p.Gly2355Ser | |
| XM_005250976.4:c.10843G>A | XP_005251033.1:p.Gly3615Ser | |
| XM_005250978.3:c.10444G>A | XP_005251035.1:p.Gly3482Ser | |
| XM_005250979.4:c.10432G>A | XP_005251036.1:p.Gly3478Ser | |
| XM_005250980.4:c.10432G>A | XP_005251037.1:p.Gly3478Ser | |
| XM_005250981.3:c.10390G>A | XP_005251038.1:p.Gly3464Ser | |
| XM_005250982.4:c.10366G>A | XP_005251039.1:p.Gly3456Ser | |
| XM_005250984.5:c.10336G>A | XP_005251041.1:p.Gly3446Ser | |
| XM_006716588.3:c.10513G>A | XP_006716651.1:p.Gly3505Ser | |
| XM_006716590.3:c.10363G>A | XP_006716653.1:p.Gly3455Ser | |
| XM_011517130.2:c.10432G>A | XP_011515432.1:p.Gly3478Ser | |
| XM_011517131.2:c.10348G>A | XP_011515433.1:p.Gly3450Ser | |
| XM_011517132.2:c.7063G>A | XP_011515434.1:p.Gly2355Ser | |
| NM_000445.5:c.10498G>A | NP_000436.2:p.Gly3500Ser | |
| NM_201378.4:c.10375G>A MANE Plus Clinical | NP_958780.1:p.Gly3459Ser | |
| NM_201379.3:c.10351G>A | NP_958781.1:p.Gly3451Ser | |
| NM_201380.4:c.10828G>A | NP_958782.1:p.Gly3610Ser | |
| NM_201381.3:c.10321G>A | NP_958783.1:p.Gly3441Ser | |
| NM_201382.4:c.10417G>A | NP_958784.1:p.Gly3473Ser | |
| NM_201383.3:c.10429G>A | NP_958785.1:p.Gly3477Ser | |
| NM_201384.3:c.10417G>A MANE Select | NP_958786.1:p.Gly3473Ser |