Linked Data
ClinVar Variation Id:
285743
dbSNP Id:
rs782513203
ExAC:
8:144998796 C / A
gnomAD v2:
8-144998796-C-A
gnomAD v3:
8-143924628-C-A
gnomAD v4:
8-143924628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143924628C>A , CM000670.2:g.143924628C>A | GRCh38 |
| NC_000008.10:g.144998796C>A , CM000670.1:g.144998796C>A | GRCh37 |
| NC_000008.9:g.145070784C>A | NCBI36 |
| NG_012492.1:g.57118G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.5433G>T | ENSP00000437303.2:p.Leu1811= | |
| ENST00000685198.1:c.5352G>T | ENSP00000510528.1:p.Leu1784= | |
| ENST00000687971.1:c.5019G>T | ENSP00000510788.1:p.Leu1673= | |
| ENST00000693060.1:c.5232G>T | ENSP00000510329.1:p.Leu1744= | |
| ENST00000345136.8:c.5301G>T MANE Select | ENSP00000344848.3:p.Leu1767= | |
| ENST00000527303.2:c.4125+2156G>T | ENSP00000433982.2:n.4125+2156G>T | |
| ENST00000322810.8:c.5712G>T | ENSP00000323856.4:p.Leu1904= | |
| ENST00000345136.7:c.5301G>T | ENSP00000344848.3:p.Leu1767= | |
| ENST00000354589.7:c.5301G>T | ENSP00000346602.3:p.Leu1767= | |
| ENST00000354958.6:c.5235G>T | ENSP00000347044.2:p.Leu1745= | |
| ENST00000356346.7:c.5259G>T MANE Plus Clinical | ENSP00000348702.3:p.Leu1753= | |
| ENST00000357649.6:c.5313G>T | ENSP00000350277.2:p.Leu1771= | |
| ENST00000398774.6:c.5205G>T | ENSP00000381756.2:p.Leu1735= | |
| ENST00000436759.6:c.5382G>T | ENSP00000388180.2:p.Leu1794= | |
| ENST00000527096.5:c.5370G>T | ENSP00000434583.1:p.Leu1790= | |
| ENST00000527303.1:c.134+2156G>T | ||
| NM_000445.4:c.5382G>T | NP_000436.2:p.Leu1794= | |
| NM_201378.3:c.5259G>T | NP_958780.1:p.Leu1753= | |
| NM_201379.2:c.5235G>T | NP_958781.1:p.Leu1745= | |
| NM_201380.3:c.5712G>T | NP_958782.1:p.Leu1904= | |
| NM_201381.2:c.5205G>T | NP_958783.1:p.Leu1735= | |
| NM_201382.3:c.5301G>T | NP_958784.1:p.Leu1767= | |
| NM_201383.2:c.5313G>T | NP_958785.1:p.Leu1771= | |
| NM_201384.2:c.5301G>T | NP_958786.1:p.Leu1767= | |
| XM_005250976.2:c.5727G>T | XP_005251033.1:p.Leu1909= | |
| XM_005250978.2:c.5328G>T | XP_005251035.1:p.Leu1776= | |
| XM_005250979.3:c.5316G>T | XP_005251036.1:p.Leu1772= | |
| XM_005250980.3:c.5316G>T | XP_005251037.1:p.Leu1772= | |
| XM_005250981.2:c.5274G>T | XP_005251038.1:p.Leu1758= | |
| XM_005250982.2:c.5250G>T | XP_005251039.1:p.Leu1750= | |
| XM_005250983.2:c.5232G>T | XP_005251040.1:p.Leu1744= | |
| XM_005250984.3:c.5220G>T | XP_005251041.1:p.Leu1740= | |
| XM_006716588.2:c.5397G>T | XP_006716651.1:p.Leu1799= | |
| XM_006716589.2:c.5247G>T | XP_006716652.1:p.Leu1749= | |
| XM_006716590.2:c.5247G>T | XP_006716653.1:p.Leu1749= | |
| XM_011517130.1:c.5316G>T | XP_011515432.1:p.Leu1772= | |
| XM_011517131.1:c.5232G>T | XP_011515433.1:p.Leu1744= | |
| XM_011517132.1:c.4071+2156G>T | XP_011515434.1:n.4071+2156G>T | |
| XM_005250976.4:c.5727G>T | XP_005251033.1:p.Leu1909= | |
| XM_005250978.3:c.5328G>T | XP_005251035.1:p.Leu1776= | |
| XM_005250979.4:c.5316G>T | XP_005251036.1:p.Leu1772= | |
| XM_005250980.4:c.5316G>T | XP_005251037.1:p.Leu1772= | |
| XM_005250981.3:c.5274G>T | XP_005251038.1:p.Leu1758= | |
| XM_005250982.4:c.5250G>T | XP_005251039.1:p.Leu1750= | |
| XM_005250984.5:c.5220G>T | XP_005251041.1:p.Leu1740= | |
| XM_006716588.3:c.5397G>T | XP_006716651.1:p.Leu1799= | |
| XM_006716590.3:c.5247G>T | XP_006716653.1:p.Leu1749= | |
| XM_011517130.2:c.5316G>T | XP_011515432.1:p.Leu1772= | |
| XM_011517131.2:c.5232G>T | XP_011515433.1:p.Leu1744= | |
| XM_011517132.2:c.4071+2156G>T | XP_011515434.1:n.4071+2156G>T | |
| NM_000445.5:c.5382G>T | NP_000436.2:p.Leu1794= | |
| NM_201378.4:c.5259G>T MANE Plus Clinical | NP_958780.1:p.Leu1753= | |
| NM_201379.3:c.5235G>T | NP_958781.1:p.Leu1745= | |
| NM_201380.4:c.5712G>T | NP_958782.1:p.Leu1904= | |
| NM_201381.3:c.5205G>T | NP_958783.1:p.Leu1735= | |
| NM_201382.4:c.5301G>T | NP_958784.1:p.Leu1767= | |
| NM_201383.3:c.5313G>T | NP_958785.1:p.Leu1771= | |
| NM_201384.3:c.5301G>T MANE Select | NP_958786.1:p.Leu1767= |