Linked Data
ClinVar Variation Id:
130224
dbSNP Id:
rs17183814
ExAC:
2:166152389 G / A
gnomAD v2:
2-166152389-G-A
gnomAD v3:
2-165295879-G-A
gnomAD v4:
2-165295879-G-A
ERepo:
CA155062/MONDO:0100038/068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165295879G>A , CM000664.2:g.165295879G>A | GRCh38 |
| NC_000002.11:g.166152389G>A , CM000664.1:g.166152389G>A | GRCh37 |
| NC_000002.10:g.165860635G>A | NCBI36 |
| NG_008143.1:g.61478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.56G>A MANE Plus Clinical | ENSP00000486885.1:p.Arg19Lys | |
| ENST00000375437.7:c.56G>A MANE Select | ENSP00000364586.2:p.Arg19Lys | |
| ENST00000635945.1:n.419G>A | ||
| ENST00000636071.2:c.56G>A | ENSP00000490107.1:p.Arg19Lys | |
| ENST00000636135.1:c.56G>A | ENSP00000489821.1:p.Arg19Lys | |
| ENST00000636384.2:c.56G>A | ENSP00000490765.1:p.Arg19Lys | |
| ENST00000636662.2:c.56G>A | ENSP00000489873.1:p.Arg19Lys | |
| ENST00000636769.1:c.56G>A | ENSP00000490800.1:p.Arg19Lys | |
| ENST00000636985.2:c.-552-1G>A | ENSP00000490849.1:n.-552-1G>A | |
| ENST00000637266.2:c.56G>A | ENSP00000490866.1:p.Arg19Lys | |
| ENST00000637367.1:c.56G>A | ENSP00000490592.1:p.Arg19Lys | |
| ENST00000638151.1:n.141-1G>A | ||
| ENST00000283256.10:c.56G>A | ENSP00000283256.6:p.Arg19Lys | |
| ENST00000375427.4:c.56G>A | ENSP00000364576.2:p.Arg19Lys | |
| ENST00000375437.6:c.56G>A | ENSP00000364586.2:p.Arg19Lys | |
| ENST00000424833.5:c.56G>A | ENSP00000406454.2:p.Arg19Lys | |
| ENST00000480032.4:n.199G>A | ||
| ENST00000631182.2:c.56G>A | ENSP00000486885.1:p.Arg19Lys | |
| NM_001040142.1:c.56G>A | NP_001035232.1:p.Arg19Lys | |
| NM_001040143.1:c.56G>A | NP_001035233.1:p.Arg19Lys | |
| NM_021007.2:c.56G>A | NP_066287.2:p.Arg19Lys | |
| XM_005246750.2:c.56G>A | XP_005246807.1:p.Arg19Lys | |
| XM_005246753.2:c.56G>A | XP_005246810.1:p.Arg19Lys | |
| XM_005246754.3:c.27-1G>A | XP_005246811.1:n.27-1G>A | |
| XM_011511608.1:c.56G>A | XP_011509910.1:p.Arg19Lys | |
| XM_011511609.1:c.56G>A | XP_011509911.1:p.Arg19Lys | |
| XM_005246753.3:c.56G>A | XP_005246810.1:p.Arg19Lys | |
| XM_017004656.1:c.56G>A | XP_016860145.1:p.Arg19Lys | |
| XM_017004657.1:c.56G>A | XP_016860146.1:p.Arg19Lys | |
| XM_017004658.1:c.-885G>A | XP_016860147.1:n.-885G>A | |
| XM_024453037.1:c.-606G>A | XP_024308805.1:n.-606G>A | |
| NM_001040142.2:c.56G>A MANE Select | NP_001035232.1:p.Arg19Lys | |
| NM_001040143.2:c.56G>A | NP_001035233.1:p.Arg19Lys | |
| NM_001371246.1:c.56G>A MANE Plus Clinical | NP_001358175.1:p.Arg19Lys | |
| NM_001371247.1:c.56G>A | NP_001358176.1:p.Arg19Lys | |
| NM_021007.3:c.56G>A | NP_066287.2:p.Arg19Lys |