Linked Data
ClinVar Variation Id:
12657
ClinVar RCV Id:
RCV000013493
dbSNP Id:
rs267607158
gnomAD v4:
2-178740125-G-A
PubMed:
PMID:11846417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740125G>A , CM000664.2:g.178740125G>A | GRCh38 |
| NC_000002.11:g.179604852G>A , CM000664.1:g.179604852G>A | GRCh37 |
| NC_000002.10:g.179313097G>A | NCBI36 |
| NG_011618.3:g.95678C>T , LRG_391:g.95678C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.10361-1765C>T | ENSP00000343764.6:n.10361-1765C>T | |
| ENST00000342175.11:c.12595C>T | ENSP00000340554.6:p.Gln4199Ter | |
| ENST00000359218.10:c.12394C>T | ENSP00000352154.5:p.Gln4132Ter | |
| ENST00000342175.10:c.12595C>T | ENSP00000340554.6:p.Gln4199Ter | |
| ENST00000342992.10:c.10361-1765C>T | ENSP00000343764.6:n.10361-1765C>T | |
| ENST00000359218.9:c.12394C>T | ENSP00000352154.5:p.Gln4132Ter | |
| ENST00000460472.6:c.12019C>T | ENSP00000434586.1:p.Gln4007Ter | |
| ENST00000589042.5:c.13108C>T MANE Select | ENSP00000467141.1:p.Gln4370Ter | |
| ENST00000591111.5:c.12157C>T | ENSP00000465570.1:p.Gln4053Ter | |
| ENST00000615779.4:c.12157C>T | ENSP00000483597.1:p.Gln4053Ter | |
| NM_001256850.1:c.12157C>T | NP_001243779.1:p.Gln4053Ter | |
| NM_001267550.2:c.13108C>T MANE Select | NP_001254479.2:p.Gln4370Ter | |
| NM_003319.4:c.12019C>T | NP_003310.4:p.Gln4007Ter | |
| NM_133378.4:c.10361-1765C>T | NP_596869.4:n.10361-1765C>T | |
| NM_133432.3:c.12394C>T | NP_597676.3:p.Gln4132Ter | |
| NM_133437.4:c.12595C>T | NP_597681.4:p.Gln4199Ter | |
| XM_011511729.1:c.12205C>T | XP_011510031.1:p.Gln4069Ter | |
| XM_011511730.1:c.12205C>T | XP_011510032.1:p.Gln4069Ter | |
| XM_011511731.1:c.12064C>T | XP_011510033.1:p.Gln4022Ter | |
| XM_017004819.1:c.12160C>T | XP_016860308.1:p.Gln4054Ter | |
| XM_017004820.1:c.10364-1765C>T | XP_016860309.1:n.10364-1765C>T | |
| XM_017004821.1:c.10361-1765C>T | XP_016860310.1:n.10361-1765C>T | |
| XM_017004822.1:c.12160C>T | XP_016860311.1:p.Gln4054Ter | |
| XM_017004823.1:c.12160C>T | XP_016860312.1:p.Gln4054Ter | |
| XM_024453094.1:c.12160C>T | XP_024308862.1:p.Gln4054Ter | |
| XM_024453095.1:c.12160C>T | XP_024308863.1:p.Gln4054Ter | |
| XM_024453096.1:c.12160C>T | XP_024308864.1:p.Gln4054Ter | |
| XM_024453097.1:c.12160C>T | XP_024308865.1:p.Gln4054Ter | |
| XM_024453098.1:c.12160C>T | XP_024308866.1:p.Gln4054Ter | |
| XM_024453099.1:c.12160C>T | XP_024308867.1:p.Gln4054Ter |