Linked Data
ClinVar Variation Id:
16775
ClinVar RCV Id:
RCV001843457
dbSNP Id:
rs121434560
gnomAD v4:
19-48133011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48133011C>T , CM000681.2:g.48133011C>T | GRCh38 |
| NC_000019.9:g.48636268C>T , CM000681.1:g.48636268C>T | GRCh37 |
| NC_000019.8:g.53328080C>T | NCBI36 |
| NG_007395.1:g.42293G>A , LRG_78:g.42293G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000596549.6:c.1492G>A | ENSP00000471861.2:p.Glu498Lys | |
| ENST00000596672.6:c.*754G>A | ENSP00000472331.2:n.*754G>A | |
| ENST00000597901.2:n.2375G>A | ||
| ENST00000699866.1:c.1693G>A | ENSP00000514663.1:p.Glu565Lys | |
| ENST00000699867.1:n.1713G>A | ||
| ENST00000699868.1:c.1696G>A | ENSP00000514664.1:p.Glu566Lys | |
| ENST00000699869.1:c.*20G>A | ENSP00000514665.1:n.*20G>A | |
| ENST00000699870.1:c.*20G>A | ENSP00000514666.1:n.*20G>A | |
| ENST00000699871.1:c.1597G>A | ENSP00000514667.1:p.Glu533Lys | |
| ENST00000699872.1:c.*1465G>A | ENSP00000514668.1:n.*1465G>A | |
| ENST00000699873.1:c.1606G>A | ENSP00000514669.1:p.Glu536Lys | |
| ENST00000699874.1:c.1606G>A | ENSP00000514670.1:p.Glu536Lys | |
| ENST00000699875.1:c.1693G>A | ENSP00000514671.1:p.Glu565Lys | |
| ENST00000699876.1:n.2064G>A | ||
| ENST00000699877.1:c.1693G>A | ENSP00000514672.1:p.Glu565Lys | |
| ENST00000699878.1:c.*190G>A | ENSP00000514673.1:n.*190G>A | |
| ENST00000699879.1:n.1854G>A | ||
| ENST00000263274.12:c.1696G>A MANE Select | ENSP00000263274.6:p.Glu566Lys | |
| ENST00000263274.11:c.1696G>A | ENSP00000263274.6:p.Glu566Lys | |
| ENST00000427526.6:c.1603G>A | ENSP00000442841.1:p.Glu535Lys | |
| ENST00000536218.5:c.1492G>A | ENSP00000441531.1:p.Glu498Lys | |
| ENST00000594067.5:n.1452G>A | ||
| ENST00000594759.5:c.1693G>A | ENSP00000471380.1:p.Glu565Lys | |
| ENST00000596457.1:n.484G>A | ||
| ENST00000596672.5:c.130G>A | ||
| ENST00000601091.5:c.1696G>A | ENSP00000471836.1:p.Glu566Lys | |
| ENST00000613670.4:c.1696G>A | ENSP00000483027.1:p.Glu566Lys | |
| NM_000234.2:c.1696G>A | NP_000225.1:p.Glu566Lys | |
| NM_001289063.1:c.1603G>A | NP_001275992.1:p.Glu535Lys | |
| NM_001289064.1:c.1492G>A | NP_001275993.1:p.Glu498Lys | |
| NR_110296.1:n.2113G>A | ||
| XM_005258934.2:c.1606G>A | XP_005258991.1:p.Glu536Lys | |
| XM_006723215.2:c.1693G>A | XP_006723278.1:p.Glu565Lys | |
| XM_006723216.2:c.1696G>A | XP_006723279.1:p.Glu566Lys | |
| XR_243932.2:n.1753G>A | ||
| XR_430200.1:n.1667G>A | ||
| NM_001320970.1:c.1693G>A | NP_001307899.1:p.Glu565Lys | |
| NM_001320971.1:c.1606G>A | NP_001307900.1:p.Glu536Lys | |
| NR_135497.1:n.2116G>A | ||
| NR_135498.1:n.1945G>A | ||
| NR_135499.1:n.2026G>A | ||
| NR_135500.1:n.2293G>A | ||
| NR_135501.1:n.1937G>A | ||
| XM_024451513.1:c.1588G>A | XP_024307281.1:p.Glu530Lys | |
| XR_002958315.1:n.2022G>A | ||
| XR_002958316.1:n.1914G>A | ||
| NM_000234.3:c.1696G>A MANE Select | NP_000225.1:p.Glu566Lys | |
| NM_001289063.2:c.1603G>A | NP_001275992.1:p.Glu535Lys | |
| NM_001320970.2:c.1693G>A | NP_001307899.1:p.Glu565Lys | |
| NM_001320971.2:c.1606G>A | NP_001307900.1:p.Glu536Lys | |
| NR_110296.2:n.1854G>A | ||
| NR_135497.2:n.1857G>A | ||
| NR_135498.2:n.1686G>A | ||
| NR_135499.2:n.1767G>A | ||
| NR_135500.2:n.2034G>A | ||
| NR_135501.2:n.1678G>A | ||
| NM_001289064.2:c.1492G>A | NP_001275993.1:p.Glu498Lys |