Linked Data
ClinVar Variation Id:
179893
dbSNP Id:
rs727505201
gnomAD v2:
2-179502153-T-C
gnomAD v3:
2-178637426-T-C
gnomAD v4:
2-178637426-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178637426T>C , CM000664.2:g.178637426T>C | GRCh38 |
| NC_000002.11:g.179502153T>C , CM000664.1:g.179502153T>C | GRCh37 |
| NC_000002.10:g.179210398T>C | NCBI36 |
| NG_011618.3:g.198377A>G , LRG_391:g.198377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33173-7A>G | ENSP00000343764.6:n.33173-7A>G | |
| ENST00000342175.11:c.14258-7A>G | ENSP00000340554.6:n.14258-7A>G | |
| ENST00000359218.10:c.14057-7A>G | ENSP00000352154.5:n.14057-7A>G | |
| ENST00000342175.10:c.14258-7A>G | ENSP00000340554.6:n.14258-7A>G | |
| ENST00000342992.10:c.33173-7A>G | ENSP00000343764.6:n.33173-7A>G | |
| ENST00000359218.9:c.14057-7A>G | ENSP00000352154.5:n.14057-7A>G | |
| ENST00000414766.5:c.2840-627A>G | ENSP00000401501.1:n.2840-627A>G | |
| ENST00000460472.6:c.13682-7A>G | ENSP00000434586.1:n.13682-7A>G | |
| ENST00000589042.5:c.40877-7A>G MANE Select | ENSP00000467141.1:n.40877-7A>G | |
| ENST00000591111.5:c.35954-7A>G | ENSP00000465570.1:n.35954-7A>G | |
| ENST00000615779.4:c.35954-7A>G | ENSP00000483597.1:n.35954-7A>G | |
| NM_001256850.1:c.35954-7A>G | NP_001243779.1:n.35954-7A>G | |
| NM_001267550.2:c.40877-7A>G MANE Select | NP_001254479.2:n.40877-7A>G | |
| NM_003319.4:c.13682-7A>G | NP_003310.4:n.13682-7A>G | |
| NM_133378.4:c.33173-7A>G | NP_596869.4:n.33173-7A>G | |
| NM_133432.3:c.14057-7A>G | NP_597676.3:n.14057-7A>G | |
| NM_133437.4:c.14258-7A>G | NP_597681.4:n.14258-7A>G | |
| XM_011511729.1:c.39974-7A>G | XP_011510031.1:n.39974-7A>G | |
| XM_011511730.1:c.13868-7A>G | XP_011510032.1:n.13868-7A>G | |
| XM_011511731.1:c.13727-7A>G | XP_011510033.1:n.13727-7A>G | |
| XM_017004819.1:c.39770-7A>G | XP_016860308.1:n.39770-7A>G | |
| XM_017004820.1:c.35168-7A>G | XP_016860309.1:n.35168-7A>G | |
| XM_017004821.1:c.35165-7A>G | XP_016860310.1:n.35165-7A>G | |
| XM_017004822.1:c.32258-627A>G | XP_016860311.1:n.32258-627A>G | |
| XM_017004823.1:c.13823-7A>G | XP_016860312.1:n.13823-7A>G | |
| XM_024453094.1:c.35318-7A>G | XP_024308862.1:n.35318-7A>G | |
| XM_024453095.1:c.35315-7A>G | XP_024308863.1:n.35315-7A>G | |
| XM_024453096.1:c.34748-7A>G | XP_024308864.1:n.34748-7A>G | |
| XM_024453097.1:c.32090-7A>G | XP_024308865.1:n.32090-7A>G | |
| XM_024453098.1:c.32009-7A>G | XP_024308866.1:n.32009-7A>G | |
| XM_024453099.1:c.13823-627A>G | XP_024308867.1:n.13823-627A>G | |
| XM_024453100.1:c.3626-7A>G | XP_024308868.1:n.3626-7A>G |