Linked Data
ClinVar Variation Id:
510766
dbSNP Id:
rs535089650
gnomAD v2:
8-144994918-T-G
gnomAD v3:
8-143920750-T-G
gnomAD v4:
8-143920750-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143920750T>G , CM000670.2:g.143920750T>G | GRCh38 |
| NC_000008.10:g.144994918T>G , CM000670.1:g.144994918T>G | GRCh37 |
| NC_000008.9:g.145066906T>G | NCBI36 |
| NG_012492.1:g.60996A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.9203A>C | ENSP00000437303.2:p.Asn3068Thr | |
| ENST00000685198.1:c.9122A>C | ENSP00000510528.1:p.Asn3041Thr | |
| ENST00000687971.1:c.8789A>C | ENSP00000510788.1:p.Asn2930Thr | |
| ENST00000693060.1:c.9002A>C | ENSP00000510329.1:p.Asn3001Thr | |
| ENST00000345136.8:c.9071A>C MANE Select | ENSP00000344848.3:p.Asn3024Thr | |
| ENST00000527303.2:c.5771A>C | ENSP00000433982.2:p.Asn1924Thr | |
| ENST00000322810.8:c.9482A>C | ENSP00000323856.4:p.Asn3161Thr | |
| ENST00000345136.7:c.9071A>C | ENSP00000344848.3:p.Asn3024Thr | |
| ENST00000354589.7:c.9071A>C | ENSP00000346602.3:p.Asn3024Thr | |
| ENST00000354958.6:c.9005A>C | ENSP00000347044.2:p.Asn3002Thr | |
| ENST00000356346.7:c.9029A>C MANE Plus Clinical | ENSP00000348702.3:p.Asn3010Thr | |
| ENST00000357649.6:c.9083A>C | ENSP00000350277.2:p.Asn3028Thr | |
| ENST00000398774.6:c.8975A>C | ENSP00000381756.2:p.Asn2992Thr | |
| ENST00000436759.6:c.9152A>C | ENSP00000388180.2:p.Asn3051Thr | |
| ENST00000527096.5:c.9140A>C | ENSP00000434583.1:p.Asn3047Thr | |
| NM_000445.4:c.9152A>C | NP_000436.2:p.Asn3051Thr | |
| NM_201378.3:c.9029A>C | NP_958780.1:p.Asn3010Thr | |
| NM_201379.2:c.9005A>C | NP_958781.1:p.Asn3002Thr | |
| NM_201380.3:c.9482A>C | NP_958782.1:p.Asn3161Thr | |
| NM_201381.2:c.8975A>C | NP_958783.1:p.Asn2992Thr | |
| NM_201382.3:c.9071A>C | NP_958784.1:p.Asn3024Thr | |
| NM_201383.2:c.9083A>C | NP_958785.1:p.Asn3028Thr | |
| NM_201384.2:c.9071A>C | NP_958786.1:p.Asn3024Thr | |
| XM_005250976.2:c.9497A>C | XP_005251033.1:p.Asn3166Thr | |
| XM_005250978.2:c.9098A>C | XP_005251035.1:p.Asn3033Thr | |
| XM_005250979.3:c.9086A>C | XP_005251036.1:p.Asn3029Thr | |
| XM_005250980.3:c.9086A>C | XP_005251037.1:p.Asn3029Thr | |
| XM_005250981.2:c.9044A>C | XP_005251038.1:p.Asn3015Thr | |
| XM_005250982.2:c.9020A>C | XP_005251039.1:p.Asn3007Thr | |
| XM_005250983.2:c.9002A>C | XP_005251040.1:p.Asn3001Thr | |
| XM_005250984.3:c.8990A>C | XP_005251041.1:p.Asn2997Thr | |
| XM_006716588.2:c.9167A>C | XP_006716651.1:p.Asn3056Thr | |
| XM_006716589.2:c.9017A>C | XP_006716652.1:p.Asn3006Thr | |
| XM_006716590.2:c.9017A>C | XP_006716653.1:p.Asn3006Thr | |
| XM_011517130.1:c.9086A>C | XP_011515432.1:p.Asn3029Thr | |
| XM_011517131.1:c.9002A>C | XP_011515433.1:p.Asn3001Thr | |
| XM_011517132.1:c.5717A>C | XP_011515434.1:p.Asn1906Thr | |
| XM_005250976.4:c.9497A>C | XP_005251033.1:p.Asn3166Thr | |
| XM_005250978.3:c.9098A>C | XP_005251035.1:p.Asn3033Thr | |
| XM_005250979.4:c.9086A>C | XP_005251036.1:p.Asn3029Thr | |
| XM_005250980.4:c.9086A>C | XP_005251037.1:p.Asn3029Thr | |
| XM_005250981.3:c.9044A>C | XP_005251038.1:p.Asn3015Thr | |
| XM_005250982.4:c.9020A>C | XP_005251039.1:p.Asn3007Thr | |
| XM_005250984.5:c.8990A>C | XP_005251041.1:p.Asn2997Thr | |
| XM_006716588.3:c.9167A>C | XP_006716651.1:p.Asn3056Thr | |
| XM_006716590.3:c.9017A>C | XP_006716653.1:p.Asn3006Thr | |
| XM_011517130.2:c.9086A>C | XP_011515432.1:p.Asn3029Thr | |
| XM_011517131.2:c.9002A>C | XP_011515433.1:p.Asn3001Thr | |
| XM_011517132.2:c.5717A>C | XP_011515434.1:p.Asn1906Thr | |
| NM_000445.5:c.9152A>C | NP_000436.2:p.Asn3051Thr | |
| NM_201378.4:c.9029A>C MANE Plus Clinical | NP_958780.1:p.Asn3010Thr | |
| NM_201379.3:c.9005A>C | NP_958781.1:p.Asn3002Thr | |
| NM_201380.4:c.9482A>C | NP_958782.1:p.Asn3161Thr | |
| NM_201381.3:c.8975A>C | NP_958783.1:p.Asn2992Thr | |
| NM_201382.4:c.9071A>C | NP_958784.1:p.Asn3024Thr | |
| NM_201383.3:c.9083A>C | NP_958785.1:p.Asn3028Thr | |
| NM_201384.3:c.9071A>C MANE Select | NP_958786.1:p.Asn3024Thr |