Linked Data
ClinVar Variation Id:
55489
dbSNP Id:
rs80357432
gnomAD v2:
17-41209086-C-A
gnomAD v4:
17-43057069-C-A
PubMed:
PMID:12497638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057069C>A , CM000679.2:g.43057069C>A | GRCh38 |
| NC_000017.10:g.41209086C>A , CM000679.1:g.41209086C>A | GRCh37 |
| NC_000017.9:g.38462612C>A | NCBI36 |
| NG_005905.2:g.160915G>T , LRG_292:g.160915G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5257G>T | ENSP00000417241.2:p.Glu1753Ter | |
| ENST00000470026.6:c.5260G>T | ENSP00000419274.2:p.Glu1754Ter | |
| ENST00000473961.6:c.5134G>T | ENSP00000420201.2:p.Glu1712Ter | |
| ENST00000476777.6:c.5254G>T | ENSP00000417554.2:p.Glu1752Ter | |
| ENST00000477152.6:c.5182G>T | ENSP00000419988.2:p.Glu1728Ter | |
| ENST00000478531.6:c.1948G>T | ENSP00000420412.2:p.Glu650Ter | |
| ENST00000489037.2:c.5182G>T | ENSP00000420781.2:p.Glu1728Ter | |
| ENST00000493919.6:c.1810G>T | ENSP00000418819.2:p.Glu604Ter | |
| ENST00000494123.6:c.5260G>T | ENSP00000419103.2:p.Glu1754Ter | |
| ENST00000497488.2:c.4372G>T | ENSP00000418986.2:p.Glu1458Ter | |
| ENST00000618469.2:c.5260G>T | ENSP00000478114.2:p.Glu1754Ter | |
| ENST00000634433.2:c.5137G>T | ENSP00000489431.2:p.Glu1713Ter | |
| ENST00000644379.2:c.5326G>T | ENSP00000496570.2:p.Glu1776Ter | |
| ENST00000644555.2:c.1810G>T | ENSP00000494614.2:p.Glu604Ter | |
| ENST00000652672.2:c.5119G>T | ENSP00000498906.2:p.Glu1707Ter | |
| ENST00000484087.6:c.1822G>T | ENSP00000419481.2:p.Glu608Ter | |
| ENST00000357654.9:c.5260G>T MANE Select | ENSP00000350283.3:p.Glu1754Ter | |
| ENST00000471181.7:c.5323G>T | ENSP00000418960.2:p.Glu1775Ter | |
| ENST00000644379.1:c.1647G>T | ||
| ENST00000352993.7:c.1834G>T | ENSP00000312236.5:p.Glu612Ter | |
| ENST00000357654.7:c.5260G>T | ENSP00000350283.3:p.Glu1754Ter | |
| ENST00000461221.5:c.*5043G>T | ENSP00000418548.1:n.*5043G>T | |
| ENST00000468300.5:c.1948G>T | ENSP00000417148.1:p.Glu650Ter | |
| ENST00000471181.6:c.5323G>T | ENSP00000418960.2:p.Glu1775Ter | |
| ENST00000491747.6:c.1948G>T | ENSP00000420705.2:p.Glu650Ter | |
| ENST00000493795.5:c.5119G>T | ENSP00000418775.1:p.Glu1707Ter | |
| ENST00000586385.5:c.190G>T | ENSP00000465818.1:p.Glu64Ter | |
| ENST00000591534.5:c.733G>T | ENSP00000467329.1:p.Glu245Ter | |
| ENST00000591849.5:c.-98-6879G>T | ENSP00000465347.1:n.-98-6879G>T | |
| NM_007294.3:c.5260G>T , LRG_292t1:c.5260G>T | NP_009225.1:p.Glu1754Ter | |
| NM_007297.3:c.5119G>T | NP_009228.2:p.Glu1707Ter | |
| NM_007298.3:c.1948G>T | NP_009229.2:p.Glu650Ter | |
| NM_007299.3:c.1948G>T | NP_009230.2:p.Glu650Ter | |
| NM_007300.3:c.5323G>T | NP_009231.2:p.Glu1775Ter | |
| NR_027676.1:n.5396G>T | ||
| NM_007294.4:c.5260G>T MANE Select | NP_009225.1:p.Glu1754Ter | |
| NM_007297.4:c.5119G>T | NP_009228.2:p.Glu1707Ter | |
| NM_007299.4:c.1948G>T | NP_009230.2:p.Glu650Ter | |
| NM_007300.4:c.5323G>T | NP_009231.2:p.Glu1775Ter | |
| NR_027676.2:n.5437G>T |