Linked Data
ClinVar Variation Id:
542658
dbSNP Id:
rs147668131
ExAC:
2:27672571 C / T
gnomAD v2:
2-27672571-C-T
gnomAD v3:
2-27449704-C-T
gnomAD v4:
2-27449704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27449704C>T , CM000664.2:g.27449704C>T | GRCh38 |
| NC_000002.11:g.27672571C>T , CM000664.1:g.27672571C>T | GRCh37 |
| NC_000002.10:g.27526075C>T | NCBI36 |
| NG_034068.1:g.45108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4147G>A MANE Select | ENSP00000260570.3:p.Glu1383Lys | |
| ENST00000674594.1:n.759G>A | ||
| ENST00000674701.1:c.*3660G>A | ENSP00000502275.1:n.*3660G>A | |
| ENST00000674824.1:c.*2595G>A | ENSP00000501824.1:n.*2595G>A | |
| ENST00000674932.1:c.*4593G>A | ENSP00000501967.1:n.*4593G>A | |
| ENST00000675410.1:c.*2018G>A | ENSP00000502030.1:n.*2018G>A | |
| ENST00000675690.1:c.4081G>A | ENSP00000502283.1:p.Glu1361Lys | |
| ENST00000676119.1:c.*3437G>A | ENSP00000501701.1:n.*3437G>A | |
| ENST00000260570.7:c.4147G>A | ENSP00000260570.3:p.Glu1383Lys | |
| ENST00000450564.1:c.479G>A | ENSP00000399017.1:n.479G>A | |
| ENST00000507184.5:n.4428G>A | ||
| ENST00000509128.5:c.542G>A | ||
| NM_015662.2:c.4147G>A | NP_056477.1:p.Glu1383Lys | |
| XM_005264254.1:c.4081G>A | XP_005264311.1:p.Glu1361Lys | |
| XM_006711986.2:c.4084G>A | XP_006712049.1:p.Glu1362Lys | |
| XM_006711987.1:c.4147G>A | XP_006712050.1:p.Glu1383Lys | |
| XM_011532757.1:c.3466G>A | XP_011531059.1:p.Glu1156Lys | |
| XM_011532759.1:c.2587G>A | XP_011531061.1:p.Glu863Lys | |
| XM_011532760.1:c.2212G>A | XP_011531062.1:p.Glu738Lys | |
| XM_006711986.3:c.4084G>A | XP_006712049.1:p.Glu1362Lys | |
| XM_011532757.2:c.3466G>A | XP_011531059.1:p.Glu1156Lys | |
| XM_011532759.2:c.2587G>A | XP_011531061.1:p.Glu863Lys | |
| XM_011532760.2:c.2212G>A | XP_011531062.1:p.Glu738Lys | |
| XM_017003790.1:c.4018G>A | XP_016859279.1:p.Glu1340Lys | |
| XM_017003791.1:c.3466G>A | XP_016859280.1:p.Glu1156Lys | |
| XM_017003793.1:c.2284G>A | XP_016859282.1:p.Glu762Lys | |
| XM_017003794.1:c.2284G>A | XP_016859283.1:p.Glu762Lys | |
| XM_017003795.1:c.2080G>A | XP_016859284.1:p.Glu694Lys | |
| XR_001738698.1:n.4092G>A | ||
| NM_015662.3:c.4147G>A MANE Select | NP_056477.1:p.Glu1383Lys |