Linked Data
ClinVar Variation Id:
130219
dbSNP Id:
rs2228980
ExAC:
2:166201225 A / G
gnomAD v2:
2-166201225-A-G
gnomAD v3:
2-165344715-A-G
gnomAD v4:
2-165344715-A-G
ERepo:
CA155058/MONDO:0100038/068
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165344715A>G , CM000664.2:g.165344715A>G | GRCh38 |
| NC_000002.11:g.166201225A>G , CM000664.1:g.166201225A>G | GRCh37 |
| NC_000002.10:g.165909471A>G | NCBI36 |
| NG_008143.1:g.110314A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.2723A>G MANE Plus Clinical | ENSP00000486885.1:p.Lys908Arg | |
| ENST00000375437.7:c.2723A>G MANE Select | ENSP00000364586.2:p.Lys908Arg | |
| ENST00000636071.2:c.2723A>G | ENSP00000490107.1:p.Lys908Arg | |
| ENST00000636135.1:c.*1042A>G | ENSP00000489821.1:n.*1042A>G | |
| ENST00000636384.2:c.*710A>G | ENSP00000490765.1:n.*710A>G | |
| ENST00000636662.2:c.*3246A>G | ENSP00000489873.1:n.*3246A>G | |
| ENST00000636769.1:c.*665A>G | ENSP00000490800.1:n.*665A>G | |
| ENST00000636985.2:c.2327A>G | ENSP00000490849.1:p.Lys776Arg | |
| ENST00000637266.2:c.2723A>G | ENSP00000490866.1:p.Lys908Arg | |
| ENST00000673831.1:c.161A>G | ENSP00000501305.1:p.Lys54Arg | |
| ENST00000673883.1:c.161A>G | ENSP00000501309.1:p.Lys54Arg | |
| ENST00000674133.1:c.574A>G | ||
| ENST00000283256.10:c.2723A>G | ENSP00000283256.6:p.Lys908Arg | |
| ENST00000375427.4:c.2723A>G | ENSP00000364576.2:p.Lys908Arg | |
| ENST00000375437.6:c.2723A>G | ENSP00000364586.2:p.Lys908Arg | |
| ENST00000480032.4:n.2866A>G | ||
| ENST00000631182.2:c.2723A>G | ENSP00000486885.1:p.Lys908Arg | |
| NM_001040142.1:c.2723A>G | NP_001035232.1:p.Lys908Arg | |
| NM_001040143.1:c.2723A>G | NP_001035233.1:p.Lys908Arg | |
| NM_021007.2:c.2723A>G | NP_066287.2:p.Lys908Arg | |
| XM_005246750.2:c.2723A>G | XP_005246807.1:p.Lys908Arg | |
| XM_005246753.2:c.2723A>G | XP_005246810.1:p.Lys908Arg | |
| XM_005246754.3:c.2693A>G | XP_005246811.1:p.Lys898Arg | |
| XM_005246755.3:c.1970A>G | XP_005246812.1:p.Lys657Arg | |
| XM_011511608.1:c.2723A>G | XP_011509910.1:p.Lys908Arg | |
| XM_011511609.1:c.2723A>G | XP_011509911.1:p.Lys908Arg | |
| XM_005246753.3:c.2723A>G | XP_005246810.1:p.Lys908Arg | |
| XM_017004656.1:c.2723A>G | XP_016860145.1:p.Lys908Arg | |
| XM_017004657.1:c.2723A>G | XP_016860146.1:p.Lys908Arg | |
| XM_017004658.1:c.1970A>G | XP_016860147.1:p.Lys657Arg | |
| XM_017004659.1:c.521A>G | XP_016860148.1:p.Lys174Arg | |
| XM_024453037.1:c.1970A>G | XP_024308805.1:p.Lys657Arg | |
| NM_001040142.2:c.2723A>G MANE Select | NP_001035232.1:p.Lys908Arg | |
| NM_001040143.2:c.2723A>G | NP_001035233.1:p.Lys908Arg | |
| NM_001371246.1:c.2723A>G MANE Plus Clinical | NP_001358175.1:p.Lys908Arg | |
| NM_001371247.1:c.2723A>G | NP_001358176.1:p.Lys908Arg | |
| NM_021007.3:c.2723A>G | NP_066287.2:p.Lys908Arg |