Linked Data
ClinVar Variation Id:
940493
ClinVar RCV Id:
RCV001210090
dbSNP Id:
rs544310562
ExAC:
2:166243473 T / C
gnomAD v2:
2-166243473-T-C
gnomAD v3:
2-165386963-T-C
gnomAD v4:
2-165386963-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165386963T>C , CM000664.2:g.165386963T>C | GRCh38 |
| NC_000002.11:g.166243473T>C , CM000664.1:g.166243473T>C | GRCh37 |
| NC_000002.10:g.165951719T>C | NCBI36 |
| NG_008143.1:g.152562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.4769T>C MANE Plus Clinical | ENSP00000486885.1:p.Phe1590Ser | |
| ENST00000375437.7:c.4769T>C MANE Select | ENSP00000364586.2:p.Phe1590Ser | |
| ENST00000636071.2:c.4769T>C | ENSP00000490107.1:p.Phe1590Ser | |
| ENST00000636135.1:c.*3088T>C | ENSP00000489821.1:n.*3088T>C | |
| ENST00000636384.2:c.*2756T>C | ENSP00000490765.1:n.*2756T>C | |
| ENST00000636662.2:c.*5292T>C | ENSP00000489873.1:n.*5292T>C | |
| ENST00000636769.1:c.*2711T>C | ENSP00000490800.1:n.*2711T>C | |
| ENST00000636985.2:c.4373T>C | ENSP00000490849.1:p.Phe1458Ser | |
| ENST00000637266.2:c.4769T>C | ENSP00000490866.1:p.Phe1590Ser | |
| ENST00000283256.10:c.4769T>C | ENSP00000283256.6:p.Phe1590Ser | |
| ENST00000375427.4:c.4769T>C | ENSP00000364576.2:p.Phe1590Ser | |
| ENST00000375437.6:c.4769T>C | ENSP00000364586.2:p.Phe1590Ser | |
| ENST00000480032.4:n.8200T>C | ||
| ENST00000631182.2:c.4769T>C | ENSP00000486885.1:p.Phe1590Ser | |
| NM_001040142.1:c.4769T>C | NP_001035232.1:p.Phe1590Ser | |
| NM_001040143.1:c.4769T>C | NP_001035233.1:p.Phe1590Ser | |
| NM_021007.2:c.4769T>C | NP_066287.2:p.Phe1590Ser | |
| XM_005246750.2:c.4769T>C | XP_005246807.1:p.Phe1590Ser | |
| XM_005246753.2:c.4769T>C | XP_005246810.1:p.Phe1590Ser | |
| XM_005246754.3:c.4739T>C | XP_005246811.1:p.Phe1580Ser | |
| XM_005246755.3:c.4016T>C | XP_005246812.1:p.Phe1339Ser | |
| XM_011511608.1:c.4769T>C | XP_011509910.1:p.Phe1590Ser | |
| XM_011511609.1:c.4769T>C | XP_011509911.1:p.Phe1590Ser | |
| XM_005246753.3:c.4769T>C | XP_005246810.1:p.Phe1590Ser | |
| XM_017004656.1:c.4769T>C | XP_016860145.1:p.Phe1590Ser | |
| XM_017004657.1:c.4769T>C | XP_016860146.1:p.Phe1590Ser | |
| XM_017004658.1:c.4016T>C | XP_016860147.1:p.Phe1339Ser | |
| XM_017004659.1:c.2567T>C | XP_016860148.1:p.Phe856Ser | |
| XM_024453037.1:c.4016T>C | XP_024308805.1:p.Phe1339Ser | |
| NM_001040142.2:c.4769T>C MANE Select | NP_001035232.1:p.Phe1590Ser | |
| NM_001040143.2:c.4769T>C | NP_001035233.1:p.Phe1590Ser | |
| NM_001371246.1:c.4769T>C MANE Plus Clinical | NP_001358175.1:p.Phe1590Ser | |
| NM_001371247.1:c.4769T>C | NP_001358176.1:p.Phe1590Ser | |
| NM_021007.3:c.4769T>C | NP_066287.2:p.Phe1590Ser |