Linked Data
dbSNP Id:
rs753669797
ExAC:
2:179500057 A / G
gnomAD v2:
2-179500057-A-G
gnomAD v4:
2-178635330-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178635330A>G , CM000664.2:g.178635330A>G | GRCh38 |
| NC_000002.11:g.179500057A>G , CM000664.1:g.179500057A>G | GRCh37 |
| NC_000002.10:g.179208302A>G | NCBI36 |
| NG_011618.3:g.200473T>C , LRG_391:g.200473T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34181-26T>C | ENSP00000343764.6:n.34181-26T>C | |
| ENST00000342175.11:c.15266-26T>C | ENSP00000340554.6:n.15266-26T>C | |
| ENST00000359218.10:c.15065-26T>C | ENSP00000352154.5:n.15065-26T>C | |
| ENST00000342175.10:c.15266-26T>C | ENSP00000340554.6:n.15266-26T>C | |
| ENST00000342992.10:c.34181-26T>C | ENSP00000343764.6:n.34181-26T>C | |
| ENST00000359218.9:c.15065-26T>C | ENSP00000352154.5:n.15065-26T>C | |
| ENST00000460472.6:c.14690-26T>C | ENSP00000434586.1:n.14690-26T>C | |
| ENST00000589042.5:c.41885-26T>C MANE Select | ENSP00000467141.1:n.41885-26T>C | |
| ENST00000591111.5:c.36962-26T>C | ENSP00000465570.1:n.36962-26T>C | |
| ENST00000615779.4:c.36962-26T>C | ENSP00000483597.1:n.36962-26T>C | |
| NM_001256850.1:c.36962-26T>C | NP_001243779.1:n.36962-26T>C | |
| NM_001267550.2:c.41885-26T>C MANE Select | NP_001254479.2:n.41885-26T>C | |
| NM_003319.4:c.14690-26T>C | NP_003310.4:n.14690-26T>C | |
| NM_133378.4:c.34181-26T>C | NP_596869.4:n.34181-26T>C | |
| NM_133432.3:c.15065-26T>C | NP_597676.3:n.15065-26T>C | |
| NM_133437.4:c.15266-26T>C | NP_597681.4:n.15266-26T>C | |
| XM_011511729.1:c.40982-26T>C | XP_011510031.1:n.40982-26T>C | |
| XM_011511730.1:c.14876-26T>C | XP_011510032.1:n.14876-26T>C | |
| XM_011511731.1:c.14735-26T>C | XP_011510033.1:n.14735-26T>C | |
| XM_017004819.1:c.40778-26T>C | XP_016860308.1:n.40778-26T>C | |
| XM_017004820.1:c.36176-26T>C | XP_016860309.1:n.36176-26T>C | |
| XM_017004821.1:c.36173-26T>C | XP_016860310.1:n.36173-26T>C | |
| XM_017004822.1:c.33215-26T>C | XP_016860311.1:n.33215-26T>C | |
| XM_017004823.1:c.14831-26T>C | XP_016860312.1:n.14831-26T>C | |
| XM_024453094.1:c.36326-26T>C | XP_024308862.1:n.36326-26T>C | |
| XM_024453095.1:c.36323-26T>C | XP_024308863.1:n.36323-26T>C | |
| XM_024453096.1:c.35756-26T>C | XP_024308864.1:n.35756-26T>C | |
| XM_024453097.1:c.33098-26T>C | XP_024308865.1:n.33098-26T>C | |
| XM_024453098.1:c.33017-26T>C | XP_024308866.1:n.33017-26T>C | |
| XM_024453099.1:c.14780-26T>C | XP_024308867.1:n.14780-26T>C | |
| XM_024453100.1:c.4634-26T>C | XP_024308868.1:n.4634-26T>C |