Linked Data
ClinVar Variation Id:
1940044
ClinVar RCV Id:
RCV002650322
dbSNP Id:
rs398122980
ExAC:
19:41198128 C / T
gnomAD v2:
19-41198128-C-T
gnomAD v3:
19-40692223-C-T
gnomAD v4:
19-40692223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692223C>T , CM000681.2:g.40692223C>T | GRCh38 |
| NC_000019.9:g.41198128C>T , CM000681.1:g.41198128C>T | GRCh37 |
| NC_000019.8:g.45889968C>T | NCBI36 |
| NG_027800.1:g.29663G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.1447G>A MANE Select | ENSP00000315118.3:p.Glu483Lys | |
| ENST00000593724.2:n.3270G>A | ||
| ENST00000594490.6:c.1369G>A | ENSP00000471310.2:p.Glu457Lys | |
| ENST00000594720.6:c.1447G>A | ENSP00000470876.2:p.Glu483Lys | |
| ENST00000596455.6:n.1739G>A | ||
| ENST00000601967.6:c.1447G>A | ENSP00000470916.2:p.Glu483Lys | |
| ENST00000676555.1:c.*872G>A | ENSP00000503387.1:n.*872G>A | |
| ENST00000676578.1:c.*1189G>A | ENSP00000504076.1:n.*1189G>A | |
| ENST00000676960.1:n.1572G>A | ||
| ENST00000676962.1:n.1726G>A | ||
| ENST00000677018.1:c.1447G>A | ENSP00000503480.1:p.Glu483Lys | |
| ENST00000677039.1:n.3650G>A | ||
| ENST00000677399.1:n.1889G>A | ||
| ENST00000677496.1:c.1120G>A | ENSP00000504773.1:p.Glu374Lys | |
| ENST00000677517.1:c.1120G>A | ENSP00000503519.1:p.Glu374Lys | |
| ENST00000677633.1:c.*870G>A | ENSP00000503645.1:n.*870G>A | |
| ENST00000677800.1:c.*4551G>A | ENSP00000503794.1:n.*4551G>A | |
| ENST00000678057.1:c.*1011G>A | ENSP00000503762.1:n.*1011G>A | |
| ENST00000678119.1:n.1641G>A | ||
| ENST00000678166.1:n.1590G>A | ||
| ENST00000678312.1:n.1784G>A | ||
| ENST00000678316.1:c.*870G>A | ENSP00000504112.1:n.*870G>A | |
| ENST00000678371.1:n.1897G>A | ||
| ENST00000678404.1:c.1447G>A | ENSP00000503944.1:p.Glu483Lys | |
| ENST00000678419.1:c.1447G>A | ENSP00000504085.1:p.Glu483Lys | |
| ENST00000678433.1:n.1803G>A | ||
| ENST00000678467.1:c.1447G>A | ENSP00000504072.1:p.Glu483Lys | |
| ENST00000678569.1:c.*432G>A | ENSP00000504261.1:n.*432G>A | |
| ENST00000678961.1:n.1802G>A | ||
| ENST00000679002.1:n.1626G>A | ||
| ENST00000679012.1:c.1003G>A | ENSP00000504446.1:p.Glu335Lys | |
| ENST00000679070.1:c.*866G>A | ENSP00000503759.1:n.*866G>A | |
| ENST00000679130.1:c.1447G>A | ENSP00000504845.1:p.Glu483Lys | |
| ENST00000679315.1:c.*1277G>A | ENSP00000503065.1:n.*1277G>A | |
| ENST00000243583.10:c.1324G>A | ENSP00000243583.5:p.Glu442Lys | |
| ENST00000324464.7:c.1447G>A | ENSP00000315118.3:p.Glu483Lys | |
| ENST00000593724.1:n.1562G>A | ||
| NM_001142555.2:c.1324G>A | NP_001136027.1:p.Glu442Lys | |
| NM_024876.3:c.1447G>A | NP_079152.3:p.Glu483Lys | |
| XM_005259270.3:c.1609G>A | XP_005259327.2:p.Glu537Lys | |
| XM_005259271.3:c.1447G>A | XP_005259328.1:p.Glu483Lys | |
| XM_005259272.3:c.1447G>A | XP_005259329.1:p.Glu483Lys | |
| XM_005259273.3:c.1447G>A | XP_005259330.1:p.Glu483Lys | |
| XM_006723392.2:c.1447G>A | XP_006723455.1:p.Glu483Lys | |
| XM_006723393.2:c.1447G>A | XP_006723456.1:p.Glu483Lys | |
| XM_011527334.1:c.1447G>A | XP_011525636.1:p.Glu483Lys | |
| XM_011527335.1:c.1306G>A | XP_011525637.1:p.Glu436Lys | |
| XM_011527336.1:c.1477G>A | XP_011525638.1:p.Glu493Lys | |
| XM_011527337.1:c.1447G>A | XP_011525639.1:p.Glu483Lys | |
| XM_011527338.1:c.1447G>A | XP_011525640.1:p.Glu483Lys | |
| NM_024876.4:c.1447G>A MANE Select | NP_079152.3:p.Glu483Lys | |
| NM_001142555.3:c.1324G>A | NP_001136027.1:p.Glu442Lys |