Linked Data
ClinVar Variation Id:
598004
dbSNP Id:
rs61757205
ExAC:
10:14950592 C / T
gnomAD v2:
10-14950592-C-T
gnomAD v3:
10-14908593-C-T
gnomAD v4:
10-14908593-C-T
ERepo:
CA5416379/MONDO:0011225/116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14908593C>T , CM000672.2:g.14908593C>T | GRCh38 |
| NC_000010.10:g.14950592C>T , CM000672.1:g.14950592C>T | GRCh37 |
| NC_000010.9:g.14990598C>T | NCBI36 |
| NG_007276.1:g.50503G>A , LRG_54:g.50503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378241.6:c.*2082G>A | ENSP00000367487.3:n.*2082G>A | |
| ENST00000456122.2:c.*1343-9281G>A | ENSP00000413180.3:n.*1343-9281G>A | |
| ENST00000489161.2:c.*1617G>A | ENSP00000513000.2:n.*1617G>A | |
| ENST00000492201.6:c.*888G>A | ENSP00000512999.1:n.*888G>A | |
| ENST00000697047.1:c.1782+112G>A | ENSP00000513066.1:n.1782+112G>A | |
| ENST00000697070.1:c.1894G>A | ENSP00000513085.1:p.Glu632Lys | |
| ENST00000697071.1:c.*1702+112G>A | ENSP00000513086.1:n.*1702+112G>A | |
| ENST00000697072.1:c.*794+112G>A | ENSP00000513087.1:n.*794+112G>A | |
| ENST00000697073.1:c.*1560+112G>A | ENSP00000513088.2:n.*1560+112G>A | |
| ENST00000697074.1:c.*1672G>A | ENSP00000513089.2:n.*1672G>A | |
| ENST00000697075.1:c.1894G>A | ENSP00000513090.1:p.Glu632Lys | |
| ENST00000697076.1:c.*906G>A | ENSP00000513091.1:n.*906G>A | |
| ENST00000697077.1:c.*1605G>A | ENSP00000513092.1:n.*1605G>A | |
| ENST00000697078.1:c.*1601G>A | ENSP00000513093.1:n.*1601G>A | |
| ENST00000697079.1:n.1598G>A | ||
| ENST00000697080.1:c.*1758G>A | ENSP00000513094.1:n.*1758G>A | |
| ENST00000697081.1:c.*1652G>A | ENSP00000513095.1:n.*1652G>A | |
| ENST00000697082.1:c.*1923G>A | ENSP00000513096.1:n.*1923G>A | |
| ENST00000697083.1:c.*1699G>A | ENSP00000513097.1:n.*1699G>A | |
| ENST00000697084.1:c.1951G>A | ENSP00000513098.1:p.Glu651Lys | |
| ENST00000697085.1:c.*1661G>A | ENSP00000513099.1:n.*1661G>A | |
| ENST00000378278.7:c.1894G>A MANE Select | ENSP00000367527.2:p.Glu632Lys | |
| ENST00000357717.6:c.1549G>A | ENSP00000350349.2:p.Glu517Lys | |
| ENST00000378242.1:c.853G>A | ENSP00000367488.1:p.Glu285Lys | |
| ENST00000378246.6:c.1549G>A | ENSP00000367492.2:p.Glu517Lys | |
| ENST00000378249.5:c.1549G>A | ENSP00000367496.1:p.Glu517Lys | |
| ENST00000378254.5:c.1534G>A | ENSP00000367502.1:p.Glu512Lys | |
| ENST00000378255.5:c.1534G>A | ENSP00000367503.1:p.Glu512Lys | |
| ENST00000378258.5:c.1534G>A | ENSP00000367506.1:p.Glu512Lys | |
| ENST00000378278.6:c.1894G>A | ENSP00000367527.2:p.Glu632Lys | |
| ENST00000378289.8:c.1157-9281G>A | ENSP00000367538.4:n.1157-9281G>A | |
| ENST00000396817.6:c.1534G>A | ENSP00000380030.2:p.Glu512Lys | |
| NM_001033855.2:c.1894G>A | NP_001029027.1:p.Glu632Lys | |
| NM_001033857.2:c.1534G>A | NP_001029029.1:p.Glu512Lys | |
| NM_001033858.2:c.1534G>A | NP_001029030.1:p.Glu512Lys | |
| NM_001289076.1:c.1549G>A | NP_001276005.1:p.Glu517Lys | |
| NM_001289077.1:c.1534G>A | NP_001276006.1:p.Glu512Lys | |
| NM_001289078.1:c.1549G>A | NP_001276007.1:p.Glu517Lys | |
| NM_001289079.1:c.1534G>A | NP_001276008.1:p.Glu512Lys | |
| NM_022487.3:c.1549G>A | NP_071932.2:p.Glu517Lys | |
| NR_110297.1:n.2669G>A | ||
| XM_006717491.2:c.1549G>A | XP_006717554.1:p.Glu517Lys | |
| XM_011519616.1:c.1549G>A | XP_011517918.1:p.Glu517Lys | |
| XM_011519617.1:c.1549G>A | XP_011517919.1:p.Glu517Lys | |
| XM_011519618.1:c.1549G>A | XP_011517920.1:p.Glu517Lys | |
| XM_011519619.1:c.1534G>A | XP_011517921.1:p.Glu512Lys | |
| NM_001350965.1:c.1782+112G>A | NP_001337894.1:n.1782+112G>A | |
| NM_001350966.1:c.1437+112G>A | NP_001337895.1:n.1437+112G>A | |
| NM_001350967.1:c.1422+112G>A | NP_001337896.1:n.1422+112G>A | |
| NR_146960.1:n.2149+112G>A | ||
| NR_146961.1:n.2410G>A | ||
| NR_146962.1:n.2381G>A | ||
| XM_006717491.4:c.1549G>A | XP_006717554.1:p.Glu517Lys | |
| XM_017016557.1:c.1549G>A | XP_016872046.1:p.Glu517Lys | |
| XM_017016558.1:c.1534G>A | XP_016872047.1:p.Glu512Lys | |
| XM_024448134.1:c.1534G>A | XP_024303902.1:p.Glu512Lys | |
| XM_024448135.1:c.1437+112G>A | XP_024303903.1:n.1437+112G>A | |
| XR_001747185.2:n.2183G>A | ||
| XR_001747187.1:n.2015G>A | ||
| NM_001033855.3:c.1894G>A MANE Select | NP_001029027.1:p.Glu632Lys | |
| NM_001033857.3:c.1534G>A | NP_001029029.1:p.Glu512Lys | |
| NM_001033858.3:c.1534G>A | NP_001029030.1:p.Glu512Lys | |
| NM_001289076.2:c.1549G>A | NP_001276005.1:p.Glu517Lys | |
| NM_001289077.2:c.1534G>A | NP_001276006.1:p.Glu512Lys | |
| NM_001289078.2:c.1549G>A | NP_001276007.1:p.Glu517Lys | |
| NM_001289079.2:c.1534G>A | NP_001276008.1:p.Glu512Lys | |
| NM_001350965.2:c.1782+112G>A | NP_001337894.1:n.1782+112G>A | |
| NM_001350966.2:c.1437+112G>A | NP_001337895.1:n.1437+112G>A | |
| NM_001350967.2:c.1422+112G>A | NP_001337896.1:n.1422+112G>A | |
| NM_022487.4:c.1549G>A | NP_071932.2:p.Glu517Lys | |
| NR_110297.2:n.2333G>A | ||
| NR_146961.2:n.2074G>A |