Linked Data
ClinVar Variation Id:
282428
dbSNP Id:
rs782733038
gnomAD v2:
8-145002046-G-C
gnomAD v3:
8-143927878-G-C
gnomAD v4:
8-143927878-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143927878G>C , CM000670.2:g.143927878G>C | GRCh38 |
| NC_000008.10:g.145002046G>C , CM000670.1:g.145002046G>C | GRCh37 |
| NC_000008.9:g.145074034G>C | NCBI36 |
| NG_012492.1:g.53868C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.3507C>G | ENSP00000437303.2:p.Leu1169= | |
| ENST00000685198.1:c.3426C>G | ENSP00000510528.1:p.Leu1142= | |
| ENST00000687971.1:c.3093C>G | ENSP00000510788.1:p.Leu1031= | |
| ENST00000693060.1:c.3306C>G | ENSP00000510329.1:p.Leu1102= | |
| ENST00000345136.8:c.3375C>G MANE Select | ENSP00000344848.3:p.Leu1125= | |
| ENST00000527303.2:c.3456C>G | ENSP00000433982.2:p.Leu1152= | |
| ENST00000322810.8:c.3786C>G | ENSP00000323856.4:p.Leu1262= | |
| ENST00000345136.7:c.3375C>G | ENSP00000344848.3:p.Leu1125= | |
| ENST00000354589.7:c.3375C>G | ENSP00000346602.3:p.Leu1125= | |
| ENST00000354958.6:c.3309C>G | ENSP00000347044.2:p.Leu1103= | |
| ENST00000356346.7:c.3333C>G MANE Plus Clinical | ENSP00000348702.3:p.Leu1111= | |
| ENST00000357649.6:c.3387C>G | ENSP00000350277.2:p.Leu1129= | |
| ENST00000398774.6:c.3279C>G | ENSP00000381756.2:p.Leu1093= | |
| ENST00000436759.6:c.3456C>G | ENSP00000388180.2:p.Leu1152= | |
| ENST00000527096.5:c.3444C>G | ENSP00000434583.1:p.Leu1148= | |
| NM_000445.4:c.3456C>G | NP_000436.2:p.Leu1152= | |
| NM_201378.3:c.3333C>G | NP_958780.1:p.Leu1111= | |
| NM_201379.2:c.3309C>G | NP_958781.1:p.Leu1103= | |
| NM_201380.3:c.3786C>G | NP_958782.1:p.Leu1262= | |
| NM_201381.2:c.3279C>G | NP_958783.1:p.Leu1093= | |
| NM_201382.3:c.3375C>G | NP_958784.1:p.Leu1125= | |
| NM_201383.2:c.3387C>G | NP_958785.1:p.Leu1129= | |
| NM_201384.2:c.3375C>G | NP_958786.1:p.Leu1125= | |
| XM_005250976.2:c.3801C>G | XP_005251033.1:p.Leu1267= | |
| XM_005250978.2:c.3402C>G | XP_005251035.1:p.Leu1134= | |
| XM_005250979.3:c.3390C>G | XP_005251036.1:p.Leu1130= | |
| XM_005250980.3:c.3390C>G | XP_005251037.1:p.Leu1130= | |
| XM_005250981.2:c.3348C>G | XP_005251038.1:p.Leu1116= | |
| XM_005250982.2:c.3324C>G | XP_005251039.1:p.Leu1108= | |
| XM_005250983.2:c.3306C>G | XP_005251040.1:p.Leu1102= | |
| XM_005250984.3:c.3294C>G | XP_005251041.1:p.Leu1098= | |
| XM_006716588.2:c.3471C>G | XP_006716651.1:p.Leu1157= | |
| XM_006716589.2:c.3321C>G | XP_006716652.1:p.Leu1107= | |
| XM_006716590.2:c.3321C>G | XP_006716653.1:p.Leu1107= | |
| XM_011517130.1:c.3390C>G | XP_011515432.1:p.Leu1130= | |
| XM_011517131.1:c.3306C>G | XP_011515433.1:p.Leu1102= | |
| XM_011517132.1:c.3402C>G | XP_011515434.1:p.Leu1134= | |
| XM_005250976.4:c.3801C>G | XP_005251033.1:p.Leu1267= | |
| XM_005250978.3:c.3402C>G | XP_005251035.1:p.Leu1134= | |
| XM_005250979.4:c.3390C>G | XP_005251036.1:p.Leu1130= | |
| XM_005250980.4:c.3390C>G | XP_005251037.1:p.Leu1130= | |
| XM_005250981.3:c.3348C>G | XP_005251038.1:p.Leu1116= | |
| XM_005250982.4:c.3324C>G | XP_005251039.1:p.Leu1108= | |
| XM_005250984.5:c.3294C>G | XP_005251041.1:p.Leu1098= | |
| XM_006716588.3:c.3471C>G | XP_006716651.1:p.Leu1157= | |
| XM_006716590.3:c.3321C>G | XP_006716653.1:p.Leu1107= | |
| XM_011517130.2:c.3390C>G | XP_011515432.1:p.Leu1130= | |
| XM_011517131.2:c.3306C>G | XP_011515433.1:p.Leu1102= | |
| XM_011517132.2:c.3402C>G | XP_011515434.1:p.Leu1134= | |
| NM_000445.5:c.3456C>G | NP_000436.2:p.Leu1152= | |
| NM_201378.4:c.3333C>G MANE Plus Clinical | NP_958780.1:p.Leu1111= | |
| NM_201379.3:c.3309C>G | NP_958781.1:p.Leu1103= | |
| NM_201380.4:c.3786C>G | NP_958782.1:p.Leu1262= | |
| NM_201381.3:c.3279C>G | NP_958783.1:p.Leu1093= | |
| NM_201382.4:c.3375C>G | NP_958784.1:p.Leu1125= | |
| NM_201383.3:c.3387C>G | NP_958785.1:p.Leu1129= | |
| NM_201384.3:c.3375C>G MANE Select | NP_958786.1:p.Leu1125= |