Linked Data
ClinVar Variation Id:
331759
dbSNP Id:
rs886055006
gnomAD v3:
2-165391602-A-C
gnomAD v4:
2-165391602-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165391602A>C , CM000664.2:g.165391602A>C | GRCh38 |
| NC_000002.11:g.166248112A>C , CM000664.1:g.166248112A>C | GRCh37 |
| NC_000002.10:g.165956358A>C | NCBI36 |
| NG_008143.1:g.157201A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.*1778A>C MANE Plus Clinical | ENSP00000486885.1:n.*1778A>C | |
| ENST00000375437.7:c.*1778A>C MANE Select | ENSP00000364586.2:n.*1778A>C | |
| ENST00000636071.2:c.*1778A>C | ENSP00000490107.1:n.*1778A>C | |
| ENST00000636135.1:c.*6115A>C | ENSP00000489821.1:n.*6115A>C | |
| ENST00000636384.2:c.*5783A>C | ENSP00000490765.1:n.*5783A>C | |
| ENST00000636662.2:c.*8319A>C | ENSP00000489873.1:n.*8319A>C | |
| ENST00000636769.1:c.*5738A>C | ENSP00000490800.1:n.*5738A>C | |
| ENST00000636985.2:c.*1778A>C | ENSP00000490849.1:n.*1778A>C | |
| ENST00000637266.2:c.*1778A>C | ENSP00000490866.1:n.*1778A>C | |
| ENST00000283256.10:c.*1778A>C | ENSP00000283256.6:n.*1778A>C | |
| ENST00000375427.4:c.*1778A>C | ENSP00000364576.2:n.*1778A>C | |
| ENST00000375437.6:c.*1778A>C | ENSP00000364586.2:n.*1778A>C | |
| ENST00000480032.4:n.11227A>C | ||
| ENST00000631182.2:c.*1778A>C | ENSP00000486885.1:n.*1778A>C | |
| NM_001040142.1:c.*1778A>C | NP_001035232.1:n.*1778A>C | |
| NM_001040143.1:c.*1778A>C | NP_001035233.1:n.*1778A>C | |
| NM_021007.2:c.*1778A>C | NP_066287.2:n.*1778A>C | |
| XM_005246750.2:c.*1778A>C | XP_005246807.1:n.*1778A>C | |
| XM_005246753.2:c.*1778A>C | XP_005246810.1:n.*1778A>C | |
| XM_005246754.3:c.*1778A>C | XP_005246811.1:n.*1778A>C | |
| XM_005246755.3:c.*1778A>C | XP_005246812.1:n.*1778A>C | |
| XM_011511608.1:c.*1778A>C | XP_011509910.1:n.*1778A>C | |
| XM_011511609.1:c.*1778A>C | XP_011509911.1:n.*1778A>C | |
| XM_005246753.3:c.*1778A>C | XP_005246810.1:n.*1778A>C | |
| XM_017004656.1:c.*1778A>C | XP_016860145.1:n.*1778A>C | |
| XM_017004657.1:c.*1778A>C | XP_016860146.1:n.*1778A>C | |
| XM_017004658.1:c.*1778A>C | XP_016860147.1:n.*1778A>C | |
| XM_017004659.1:c.*1778A>C | XP_016860148.1:n.*1778A>C | |
| XM_024453037.1:c.*1778A>C | XP_024308805.1:n.*1778A>C | |
| NM_001040142.2:c.*1778A>C MANE Select | NP_001035232.1:n.*1778A>C | |
| NM_001040143.2:c.*1778A>C | NP_001035233.1:n.*1778A>C | |
| NM_001371246.1:c.*1778A>C MANE Plus Clinical | NP_001358175.1:n.*1778A>C | |
| NM_001371247.1:c.*1778A>C | NP_001358176.1:n.*1778A>C | |
| NM_021007.3:c.*1778A>C | NP_066287.2:n.*1778A>C |