Linked Data
ClinVar Variation Id:
508466
dbSNP Id:
rs376577874
ExAC:
8:144995878 T / G
gnomAD v2:
8-144995878-T-G
gnomAD v3:
8-143921710-T-G
gnomAD v4:
8-143921710-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143921710T>G , CM000670.2:g.143921710T>G | GRCh38 |
| NC_000008.10:g.144995878T>G , CM000670.1:g.144995878T>G | GRCh37 |
| NC_000008.9:g.145067866T>G | NCBI36 |
| NG_012492.1:g.60036A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.8243A>C | ENSP00000437303.2:p.Lys2748Thr | |
| ENST00000685198.1:c.8162A>C | ENSP00000510528.1:p.Lys2721Thr | |
| ENST00000687971.1:c.7829A>C | ENSP00000510788.1:p.Lys2610Thr | |
| ENST00000693060.1:c.8042A>C | ENSP00000510329.1:p.Lys2681Thr | |
| ENST00000345136.8:c.8111A>C MANE Select | ENSP00000344848.3:p.Lys2704Thr | |
| ENST00000527303.2:c.4811A>C | ENSP00000433982.2:p.Lys1604Thr | |
| ENST00000322810.8:c.8522A>C | ENSP00000323856.4:p.Lys2841Thr | |
| ENST00000345136.7:c.8111A>C | ENSP00000344848.3:p.Lys2704Thr | |
| ENST00000354589.7:c.8111A>C | ENSP00000346602.3:p.Lys2704Thr | |
| ENST00000354958.6:c.8045A>C | ENSP00000347044.2:p.Lys2682Thr | |
| ENST00000356346.7:c.8069A>C MANE Plus Clinical | ENSP00000348702.3:p.Lys2690Thr | |
| ENST00000357649.6:c.8123A>C | ENSP00000350277.2:p.Lys2708Thr | |
| ENST00000398774.6:c.8015A>C | ENSP00000381756.2:p.Lys2672Thr | |
| ENST00000436759.6:c.8192A>C | ENSP00000388180.2:p.Lys2731Thr | |
| ENST00000527096.5:c.8180A>C | ENSP00000434583.1:p.Lys2727Thr | |
| NM_000445.4:c.8192A>C | NP_000436.2:p.Lys2731Thr | |
| NM_201378.3:c.8069A>C | NP_958780.1:p.Lys2690Thr | |
| NM_201379.2:c.8045A>C | NP_958781.1:p.Lys2682Thr | |
| NM_201380.3:c.8522A>C | NP_958782.1:p.Lys2841Thr | |
| NM_201381.2:c.8015A>C | NP_958783.1:p.Lys2672Thr | |
| NM_201382.3:c.8111A>C | NP_958784.1:p.Lys2704Thr | |
| NM_201383.2:c.8123A>C | NP_958785.1:p.Lys2708Thr | |
| NM_201384.2:c.8111A>C | NP_958786.1:p.Lys2704Thr | |
| XM_005250976.2:c.8537A>C | XP_005251033.1:p.Lys2846Thr | |
| XM_005250978.2:c.8138A>C | XP_005251035.1:p.Lys2713Thr | |
| XM_005250979.3:c.8126A>C | XP_005251036.1:p.Lys2709Thr | |
| XM_005250980.3:c.8126A>C | XP_005251037.1:p.Lys2709Thr | |
| XM_005250981.2:c.8084A>C | XP_005251038.1:p.Lys2695Thr | |
| XM_005250982.2:c.8060A>C | XP_005251039.1:p.Lys2687Thr | |
| XM_005250983.2:c.8042A>C | XP_005251040.1:p.Lys2681Thr | |
| XM_005250984.3:c.8030A>C | XP_005251041.1:p.Lys2677Thr | |
| XM_006716588.2:c.8207A>C | XP_006716651.1:p.Lys2736Thr | |
| XM_006716589.2:c.8057A>C | XP_006716652.1:p.Lys2686Thr | |
| XM_006716590.2:c.8057A>C | XP_006716653.1:p.Lys2686Thr | |
| XM_011517130.1:c.8126A>C | XP_011515432.1:p.Lys2709Thr | |
| XM_011517131.1:c.8042A>C | XP_011515433.1:p.Lys2681Thr | |
| XM_011517132.1:c.4757A>C | XP_011515434.1:p.Lys1586Thr | |
| XM_005250976.4:c.8537A>C | XP_005251033.1:p.Lys2846Thr | |
| XM_005250978.3:c.8138A>C | XP_005251035.1:p.Lys2713Thr | |
| XM_005250979.4:c.8126A>C | XP_005251036.1:p.Lys2709Thr | |
| XM_005250980.4:c.8126A>C | XP_005251037.1:p.Lys2709Thr | |
| XM_005250981.3:c.8084A>C | XP_005251038.1:p.Lys2695Thr | |
| XM_005250982.4:c.8060A>C | XP_005251039.1:p.Lys2687Thr | |
| XM_005250984.5:c.8030A>C | XP_005251041.1:p.Lys2677Thr | |
| XM_006716588.3:c.8207A>C | XP_006716651.1:p.Lys2736Thr | |
| XM_006716590.3:c.8057A>C | XP_006716653.1:p.Lys2686Thr | |
| XM_011517130.2:c.8126A>C | XP_011515432.1:p.Lys2709Thr | |
| XM_011517131.2:c.8042A>C | XP_011515433.1:p.Lys2681Thr | |
| XM_011517132.2:c.4757A>C | XP_011515434.1:p.Lys1586Thr | |
| NM_000445.5:c.8192A>C | NP_000436.2:p.Lys2731Thr | |
| NM_201378.4:c.8069A>C MANE Plus Clinical | NP_958780.1:p.Lys2690Thr | |
| NM_201379.3:c.8045A>C | NP_958781.1:p.Lys2682Thr | |
| NM_201380.4:c.8522A>C | NP_958782.1:p.Lys2841Thr | |
| NM_201381.3:c.8015A>C | NP_958783.1:p.Lys2672Thr | |
| NM_201382.4:c.8111A>C | NP_958784.1:p.Lys2704Thr | |
| NM_201383.3:c.8123A>C | NP_958785.1:p.Lys2708Thr | |
| NM_201384.3:c.8111A>C MANE Select | NP_958786.1:p.Lys2704Thr |