Linked Data
ClinVar Variation Id:
93053
dbSNP Id:
rs182120395
ExAC:
8:144999541 G / A
gnomAD v2:
8-144999541-G-A
gnomAD v3:
8-143925373-G-A
gnomAD v4:
8-143925373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143925373G>A , CM000670.2:g.143925373G>A | GRCh38 |
| NC_000008.10:g.144999541G>A , CM000670.1:g.144999541G>A | GRCh37 |
| NC_000008.9:g.145071529G>A | NCBI36 |
| NG_012492.1:g.56373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.4688C>T | ENSP00000437303.2:p.Ser1563Leu | |
| ENST00000685198.1:c.4607C>T | ENSP00000510528.1:p.Ser1536Leu | |
| ENST00000687971.1:c.4274C>T | ENSP00000510788.1:p.Ser1425Leu | |
| ENST00000693060.1:c.4487C>T | ENSP00000510329.1:p.Ser1496Leu | |
| ENST00000345136.8:c.4556C>T MANE Select | ENSP00000344848.3:p.Ser1519Leu | |
| ENST00000527303.2:c.4125+1411C>T | ENSP00000433982.2:n.4125+1411C>T | |
| ENST00000322810.8:c.4967C>T | ENSP00000323856.4:p.Ser1656Leu | |
| ENST00000345136.7:c.4556C>T | ENSP00000344848.3:p.Ser1519Leu | |
| ENST00000354589.7:c.4556C>T | ENSP00000346602.3:p.Ser1519Leu | |
| ENST00000354958.6:c.4490C>T | ENSP00000347044.2:p.Ser1497Leu | |
| ENST00000356346.7:c.4514C>T MANE Plus Clinical | ENSP00000348702.3:p.Ser1505Leu | |
| ENST00000357649.6:c.4568C>T | ENSP00000350277.2:p.Ser1523Leu | |
| ENST00000398774.6:c.4460C>T | ENSP00000381756.2:p.Ser1487Leu | |
| ENST00000436759.6:c.4637C>T | ENSP00000388180.2:p.Ser1546Leu | |
| ENST00000527096.5:c.4625C>T | ENSP00000434583.1:p.Ser1542Leu | |
| ENST00000527303.1:c.134+1411C>T | ||
| NM_000445.4:c.4637C>T | NP_000436.2:p.Ser1546Leu | |
| NM_201378.3:c.4514C>T | NP_958780.1:p.Ser1505Leu | |
| NM_201379.2:c.4490C>T | NP_958781.1:p.Ser1497Leu | |
| NM_201380.3:c.4967C>T | NP_958782.1:p.Ser1656Leu | |
| NM_201381.2:c.4460C>T | NP_958783.1:p.Ser1487Leu | |
| NM_201382.3:c.4556C>T | NP_958784.1:p.Ser1519Leu | |
| NM_201383.2:c.4568C>T | NP_958785.1:p.Ser1523Leu | |
| NM_201384.2:c.4556C>T | NP_958786.1:p.Ser1519Leu | |
| XM_005250976.2:c.4982C>T | XP_005251033.1:p.Ser1661Leu | |
| XM_005250978.2:c.4583C>T | XP_005251035.1:p.Ser1528Leu | |
| XM_005250979.3:c.4571C>T | XP_005251036.1:p.Ser1524Leu | |
| XM_005250980.3:c.4571C>T | XP_005251037.1:p.Ser1524Leu | |
| XM_005250981.2:c.4529C>T | XP_005251038.1:p.Ser1510Leu | |
| XM_005250982.2:c.4505C>T | XP_005251039.1:p.Ser1502Leu | |
| XM_005250983.2:c.4487C>T | XP_005251040.1:p.Ser1496Leu | |
| XM_005250984.3:c.4475C>T | XP_005251041.1:p.Ser1492Leu | |
| XM_006716588.2:c.4652C>T | XP_006716651.1:p.Ser1551Leu | |
| XM_006716589.2:c.4502C>T | XP_006716652.1:p.Ser1501Leu | |
| XM_006716590.2:c.4502C>T | XP_006716653.1:p.Ser1501Leu | |
| XM_011517130.1:c.4571C>T | XP_011515432.1:p.Ser1524Leu | |
| XM_011517131.1:c.4487C>T | XP_011515433.1:p.Ser1496Leu | |
| XM_011517132.1:c.4071+1411C>T | XP_011515434.1:n.4071+1411C>T | |
| XM_005250976.4:c.4982C>T | XP_005251033.1:p.Ser1661Leu | |
| XM_005250978.3:c.4583C>T | XP_005251035.1:p.Ser1528Leu | |
| XM_005250979.4:c.4571C>T | XP_005251036.1:p.Ser1524Leu | |
| XM_005250980.4:c.4571C>T | XP_005251037.1:p.Ser1524Leu | |
| XM_005250981.3:c.4529C>T | XP_005251038.1:p.Ser1510Leu | |
| XM_005250982.4:c.4505C>T | XP_005251039.1:p.Ser1502Leu | |
| XM_005250984.5:c.4475C>T | XP_005251041.1:p.Ser1492Leu | |
| XM_006716588.3:c.4652C>T | XP_006716651.1:p.Ser1551Leu | |
| XM_006716590.3:c.4502C>T | XP_006716653.1:p.Ser1501Leu | |
| XM_011517130.2:c.4571C>T | XP_011515432.1:p.Ser1524Leu | |
| XM_011517131.2:c.4487C>T | XP_011515433.1:p.Ser1496Leu | |
| XM_011517132.2:c.4071+1411C>T | XP_011515434.1:n.4071+1411C>T | |
| NM_000445.5:c.4637C>T | NP_000436.2:p.Ser1546Leu | |
| NM_201378.4:c.4514C>T MANE Plus Clinical | NP_958780.1:p.Ser1505Leu | |
| NM_201379.3:c.4490C>T | NP_958781.1:p.Ser1497Leu | |
| NM_201380.4:c.4967C>T | NP_958782.1:p.Ser1656Leu | |
| NM_201381.3:c.4460C>T | NP_958783.1:p.Ser1487Leu | |
| NM_201382.4:c.4556C>T | NP_958784.1:p.Ser1519Leu | |
| NM_201383.3:c.4568C>T | NP_958785.1:p.Ser1523Leu | |
| NM_201384.3:c.4556C>T MANE Select | NP_958786.1:p.Ser1519Leu |