Linked Data
ClinVar Variation Id:
515703
dbSNP Id:
rs782175669
ExAC:
8:144998708 G / A
gnomAD v2:
8-144998708-G-A
gnomAD v3:
8-143924540-G-A
gnomAD v4:
8-143924540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143924540G>A , CM000670.2:g.143924540G>A | GRCh38 |
| NC_000008.10:g.144998708G>A , CM000670.1:g.144998708G>A | GRCh37 |
| NC_000008.9:g.145070696G>A | NCBI36 |
| NG_012492.1:g.57206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.5521C>T | ENSP00000437303.2:p.Arg1841Cys | |
| ENST00000685198.1:c.5440C>T | ENSP00000510528.1:p.Arg1814Cys | |
| ENST00000687971.1:c.5107C>T | ENSP00000510788.1:p.Arg1703Cys | |
| ENST00000693060.1:c.5320C>T | ENSP00000510329.1:p.Arg1774Cys | |
| ENST00000345136.8:c.5389C>T MANE Select | ENSP00000344848.3:p.Arg1797Cys | |
| ENST00000527303.2:c.4126-2145C>T | ENSP00000433982.2:n.4126-2145C>T | |
| ENST00000322810.8:c.5800C>T | ENSP00000323856.4:p.Arg1934Cys | |
| ENST00000345136.7:c.5389C>T | ENSP00000344848.3:p.Arg1797Cys | |
| ENST00000354589.7:c.5389C>T | ENSP00000346602.3:p.Arg1797Cys | |
| ENST00000354958.6:c.5323C>T | ENSP00000347044.2:p.Arg1775Cys | |
| ENST00000356346.7:c.5347C>T MANE Plus Clinical | ENSP00000348702.3:p.Arg1783Cys | |
| ENST00000357649.6:c.5401C>T | ENSP00000350277.2:p.Arg1801Cys | |
| ENST00000398774.6:c.5293C>T | ENSP00000381756.2:p.Arg1765Cys | |
| ENST00000436759.6:c.5470C>T | ENSP00000388180.2:p.Arg1824Cys | |
| ENST00000527096.5:c.5458C>T | ENSP00000434583.1:p.Arg1820Cys | |
| ENST00000527303.1:c.135-2145C>T | ||
| NM_000445.4:c.5470C>T | NP_000436.2:p.Arg1824Cys | |
| NM_201378.3:c.5347C>T | NP_958780.1:p.Arg1783Cys | |
| NM_201379.2:c.5323C>T | NP_958781.1:p.Arg1775Cys | |
| NM_201380.3:c.5800C>T | NP_958782.1:p.Arg1934Cys | |
| NM_201381.2:c.5293C>T | NP_958783.1:p.Arg1765Cys | |
| NM_201382.3:c.5389C>T | NP_958784.1:p.Arg1797Cys | |
| NM_201383.2:c.5401C>T | NP_958785.1:p.Arg1801Cys | |
| NM_201384.2:c.5389C>T | NP_958786.1:p.Arg1797Cys | |
| XM_005250976.2:c.5815C>T | XP_005251033.1:p.Arg1939Cys | |
| XM_005250978.2:c.5416C>T | XP_005251035.1:p.Arg1806Cys | |
| XM_005250979.3:c.5404C>T | XP_005251036.1:p.Arg1802Cys | |
| XM_005250980.3:c.5404C>T | XP_005251037.1:p.Arg1802Cys | |
| XM_005250981.2:c.5362C>T | XP_005251038.1:p.Arg1788Cys | |
| XM_005250982.2:c.5338C>T | XP_005251039.1:p.Arg1780Cys | |
| XM_005250983.2:c.5320C>T | XP_005251040.1:p.Arg1774Cys | |
| XM_005250984.3:c.5308C>T | XP_005251041.1:p.Arg1770Cys | |
| XM_006716588.2:c.5485C>T | XP_006716651.1:p.Arg1829Cys | |
| XM_006716589.2:c.5335C>T | XP_006716652.1:p.Arg1779Cys | |
| XM_006716590.2:c.5335C>T | XP_006716653.1:p.Arg1779Cys | |
| XM_011517130.1:c.5404C>T | XP_011515432.1:p.Arg1802Cys | |
| XM_011517131.1:c.5320C>T | XP_011515433.1:p.Arg1774Cys | |
| XM_011517132.1:c.4072-2145C>T | XP_011515434.1:n.4072-2145C>T | |
| XM_005250976.4:c.5815C>T | XP_005251033.1:p.Arg1939Cys | |
| XM_005250978.3:c.5416C>T | XP_005251035.1:p.Arg1806Cys | |
| XM_005250979.4:c.5404C>T | XP_005251036.1:p.Arg1802Cys | |
| XM_005250980.4:c.5404C>T | XP_005251037.1:p.Arg1802Cys | |
| XM_005250981.3:c.5362C>T | XP_005251038.1:p.Arg1788Cys | |
| XM_005250982.4:c.5338C>T | XP_005251039.1:p.Arg1780Cys | |
| XM_005250984.5:c.5308C>T | XP_005251041.1:p.Arg1770Cys | |
| XM_006716588.3:c.5485C>T | XP_006716651.1:p.Arg1829Cys | |
| XM_006716590.3:c.5335C>T | XP_006716653.1:p.Arg1779Cys | |
| XM_011517130.2:c.5404C>T | XP_011515432.1:p.Arg1802Cys | |
| XM_011517131.2:c.5320C>T | XP_011515433.1:p.Arg1774Cys | |
| XM_011517132.2:c.4072-2145C>T | XP_011515434.1:n.4072-2145C>T | |
| NM_000445.5:c.5470C>T | NP_000436.2:p.Arg1824Cys | |
| NM_201378.4:c.5347C>T MANE Plus Clinical | NP_958780.1:p.Arg1783Cys | |
| NM_201379.3:c.5323C>T | NP_958781.1:p.Arg1775Cys | |
| NM_201380.4:c.5800C>T | NP_958782.1:p.Arg1934Cys | |
| NM_201381.3:c.5293C>T | NP_958783.1:p.Arg1765Cys | |
| NM_201382.4:c.5389C>T | NP_958784.1:p.Arg1797Cys | |
| NM_201383.3:c.5401C>T | NP_958785.1:p.Arg1801Cys | |
| NM_201384.3:c.5389C>T MANE Select | NP_958786.1:p.Arg1797Cys |