Linked Data
ClinVar Variation Id:
55540
dbSNP Id:
rs397509267
gnomAD v4:
17-43049192-G-A
PubMed:
PMID:22366370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049192G>A , CM000679.2:g.43049192G>A | GRCh38 |
| NC_000017.10:g.41201209G>A , CM000679.1:g.41201209G>A | GRCh37 |
| NC_000017.9:g.38454735G>A | NCBI36 |
| NG_005905.2:g.168792C>T , LRG_292:g.168792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5332C>T | ENSP00000417241.2:p.Gln1778Ter | |
| ENST00000470026.6:c.5335C>T | ENSP00000419274.2:p.Gln1779Ter | |
| ENST00000473961.6:c.5209C>T | ENSP00000420201.2:p.Gln1737Ter | |
| ENST00000476777.6:c.5329C>T | ENSP00000417554.2:p.Gln1777Ter | |
| ENST00000477152.6:c.5257C>T | ENSP00000419988.2:p.Gln1753Ter | |
| ENST00000478531.6:c.2023C>T | ENSP00000420412.2:p.Gln675Ter | |
| ENST00000489037.2:c.5257C>T | ENSP00000420781.2:p.Gln1753Ter | |
| ENST00000493919.6:c.1885C>T | ENSP00000418819.2:p.Gln629Ter | |
| ENST00000494123.6:c.5335C>T | ENSP00000419103.2:p.Gln1779Ter | |
| ENST00000497488.2:c.4447C>T | ENSP00000418986.2:p.Gln1483Ter | |
| ENST00000618469.2:c.5335C>T | ENSP00000478114.2:p.Gln1779Ter | |
| ENST00000634433.2:c.5212C>T | ENSP00000489431.2:p.Gln1738Ter | |
| ENST00000644379.2:c.5401C>T | ENSP00000496570.2:p.Gln1801Ter | |
| ENST00000644555.2:c.1885C>T | ENSP00000494614.2:p.Gln629Ter | |
| ENST00000652672.2:c.5194C>T | ENSP00000498906.2:p.Gln1732Ter | |
| ENST00000484087.6:c.1897C>T | ENSP00000419481.2:p.Gln633Ter | |
| ENST00000700081.1:n.1218C>T | ||
| ENST00000357654.9:c.5335C>T MANE Select | ENSP00000350283.3:p.Gln1779Ter | |
| ENST00000471181.7:c.5398C>T | ENSP00000418960.2:p.Gln1800Ter | |
| ENST00000644379.1:c.1722C>T | ||
| ENST00000352993.7:c.1909C>T | ENSP00000312236.5:p.Gln637Ter | |
| ENST00000357654.7:c.5335C>T | ENSP00000350283.3:p.Gln1779Ter | |
| ENST00000461221.5:c.*5118C>T | ENSP00000418548.1:n.*5118C>T | |
| ENST00000468300.5:c.2021-1489C>T | ENSP00000417148.1:n.2021-1489C>T | |
| ENST00000471181.6:c.5398C>T | ENSP00000418960.2:p.Gln1800Ter | |
| ENST00000491747.6:c.2023C>T | ENSP00000420705.2:p.Gln675Ter | |
| ENST00000493795.5:c.5194C>T | ENSP00000418775.1:p.Gln1732Ter | |
| ENST00000586385.5:c.265C>T | ENSP00000465818.1:p.Gln89Ter | |
| ENST00000591534.5:c.808C>T | ENSP00000467329.1:p.Gln270Ter | |
| ENST00000591849.5:c.34C>T | ENSP00000465347.1:p.Gln12Ter | |
| NM_007294.3:c.5335C>T , LRG_292t1:c.5335C>T | NP_009225.1:p.Gln1779Ter | |
| NM_007297.3:c.5194C>T | NP_009228.2:p.Gln1732Ter | |
| NM_007298.3:c.2023C>T | NP_009229.2:p.Gln675Ter | |
| NM_007299.3:c.2021-1489C>T | NP_009230.2:n.2021-1489C>T | |
| NM_007300.3:c.5398C>T | NP_009231.2:p.Gln1800Ter | |
| NR_027676.1:n.5471C>T | ||
| NM_007294.4:c.5335C>T MANE Select | NP_009225.1:p.Gln1779Ter | |
| NM_007297.4:c.5194C>T | NP_009228.2:p.Gln1732Ter | |
| NM_007299.4:c.2021-1489C>T | NP_009230.2:n.2021-1489C>T | |
| NM_007300.4:c.5398C>T | NP_009231.2:p.Gln1800Ter | |
| NR_027676.2:n.5512C>T |