Linked Data
ClinVar Variation Id:
162377
dbSNP Id:
rs724159969
gnomAD v2:
4-107248613-C-T
gnomAD v3:
4-106327456-C-T
gnomAD v4:
4-106327456-C-T
PubMed:
PMID:24958424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106327456C>T , CM000666.2:g.106327456C>T | GRCh38 |
| NC_000004.11:g.107248613C>T , CM000666.1:g.107248613C>T | GRCh37 |
| NC_000004.10:g.107468062C>T | NCBI36 |
| NG_028166.1:g.16847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394701.6:c.-156C>T | ENSP00000378191.5:n.-156C>T | |
| ENST00000442366.6:c.115C>T | ENSP00000405248.2:p.Gln39Ter | |
| ENST00000673381.2:n.1176C>T | ||
| ENST00000683179.1:n.540C>T | ||
| ENST00000684504.1:c.115C>T | ENSP00000507352.1:p.Gln39Ter | |
| ENST00000394701.5:c.187C>T | ENSP00000378191.4:p.Gln63Ter | |
| ENST00000671868.1:c.115C>T | ENSP00000499850.1:p.Gln39Ter | |
| ENST00000671960.1:c.115C>T | ENSP00000500025.1:p.Gln39Ter | |
| ENST00000672003.1:c.115C>T | ENSP00000500187.1:p.Gln39Ter | |
| ENST00000672285.1:c.115C>T | ENSP00000500668.1:p.Gln39Ter | |
| ENST00000672328.1:c.115C>T | ENSP00000500159.1:p.Gln39Ter | |
| ENST00000672337.1:c.115C>T | ENSP00000499921.1:p.Gln39Ter | |
| ENST00000672341.1:c.115C>T MANE Select | ENSP00000500620.1:p.Gln39Ter | |
| ENST00000672911.1:c.115C>T | ENSP00000500170.1:p.Gln39Ter | |
| ENST00000673018.1:c.115C>T | ENSP00000500732.1:p.Gln39Ter | |
| ENST00000673123.1:c.115C>T | ENSP00000500794.1:p.Gln39Ter | |
| ENST00000673381.1:n.1176C>T | ||
| ENST00000358008.7:c.115C>T | ENSP00000350699.3:p.Gln39Ter | |
| ENST00000394701.4:c.187C>T | ENSP00000378191.4:p.Gln63Ter | |
| ENST00000442366.5:c.115C>T | ENSP00000405248.1:p.Gln39Ter | |
| ENST00000510207.5:c.115C>T | ENSP00000423681.1:p.Gln39Ter | |
| NM_001142415.1:c.115C>T | NP_001135887.1:p.Gln39Ter | |
| NM_001142416.1:c.187C>T | NP_001135888.1:p.Gln63Ter | |
| NM_004757.3:c.115C>T | NP_004748.2:p.Gln39Ter | |
| XM_017008835.2:c.115C>T | XP_016864324.1:p.Gln39Ter | |
| XM_017008836.2:c.115C>T | XP_016864325.1:p.Gln39Ter | |
| NM_001142416.2:c.115C>T MANE Select | NP_001135888.2:p.Gln39Ter | |
| NM_001142415.2:c.115C>T | NP_001135887.1:p.Gln39Ter | |
| NM_004757.4:c.115C>T | NP_004748.2:p.Gln39Ter |