Linked Data
ClinVar Variation Id:
30933
dbSNP Id:
rs387907057
gnomAD v2:
14-68238826-G-A
gnomAD v4:
14-67772109-G-A
PubMed:
PMID:19805727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67772109G>A , CM000676.2:g.67772109G>A | GRCh38 |
| NC_000014.8:g.68238826G>A , CM000676.1:g.68238826G>A | GRCh37 |
| NC_000014.7:g.67308579G>A | NCBI36 |
| NG_011836.1:g.49481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.5422C>T MANE Select | ENSP00000251119.5:p.Gln1808Ter | |
| ENST00000676512.1:c.5440C>T | ENSP00000504552.1:p.Gln1814Ter | |
| ENST00000676620.1:c.5344C>T | ENSP00000504587.1:p.Gln1782Ter | |
| ENST00000678386.1:c.5467C>T | ENSP00000503677.1:p.Gln1823Ter | |
| ENST00000347230.8:c.5422C>T | ENSP00000251119.5:p.Gln1808Ter | |
| ENST00000554523.5:n.5559C>T | ||
| ENST00000554557.5:c.*3400C>T | ENSP00000450431.1:n.*3400C>T | |
| ENST00000555452.1:c.5422C>T | ENSP00000450603.1:p.Gln1808Ter | |
| NM_015346.3:c.5422C>T | NP_056161.2:p.Gln1808Ter | |
| XM_006720093.2:c.5422C>T | XP_006720156.1:p.Gln1808Ter | |
| XM_011536606.1:c.3913C>T | XP_011534908.1:p.Gln1305Ter | |
| XM_011536607.1:c.3097C>T | XP_011534909.1:p.Gln1033Ter | |
| XM_011536608.1:c.3004C>T | XP_011534910.1:p.Gln1002Ter | |
| XM_017021124.1:c.5440C>T | XP_016876613.1:p.Gln1814Ter | |
| XM_017021125.1:c.5440C>T | XP_016876614.1:p.Gln1814Ter | |
| XM_017021126.1:c.3931C>T | XP_016876615.1:p.Gln1311Ter | |
| XM_017021127.2:c.3115C>T | XP_016876616.1:p.Gln1039Ter | |
| XM_017021128.1:c.3022C>T | XP_016876617.1:p.Gln1008Ter | |
| NM_015346.4:c.5422C>T MANE Select | NP_056161.2:p.Gln1808Ter |