Linked Data
ClinVar Variation Id:
17751
ClinVar RCV Id:
RCV000019327
dbSNP Id:
rs104894669
ExAC:
19:580428 G / A
gnomAD v2:
19-580428-G-A
gnomAD v3:
19-580428-G-A
gnomAD v4:
19-580428-G-A
PubMed:
PMID:9130641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.580428G>A , CM000681.2:g.580428G>A | GRCh38 |
| NC_000019.9:g.580428G>A , CM000681.1:g.580428G>A | GRCh37 |
| NC_000019.8:g.531428G>A | NCBI36 |
| NG_007468.1:g.14104G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333511.9:c.622G>A MANE Select | ENSP00000333769.3:p.Glu208Lys | |
| ENST00000346916.9:c.-6G>A | ENSP00000344707.4:n.-6G>A | |
| ENST00000353555.9:c.274G>A | ENSP00000343809.4:p.Glu92Lys | |
| ENST00000571735.3:n.857G>A | ||
| ENST00000572899.6:n.315G>A | ||
| ENST00000573784.6:c.-6G>A | ENSP00000473393.2:n.-6G>A | |
| ENST00000576925.4:n.1059G>A | ||
| ENST00000576984.3:c.-6G>A | ENSP00000473528.2:n.-6G>A | |
| ENST00000613627.5:c.117G>A | ENSP00000484849.2:p.Pro39= | |
| ENST00000618112.4:c.274G>A | ENSP00000495088.2:p.Glu92Lys | |
| ENST00000679472.1:c.-6G>A | ENSP00000505067.1:n.-6G>A | |
| ENST00000680065.1:c.-6G>A | ENSP00000506020.1:n.-6G>A | |
| ENST00000680326.1:c.265G>A | ENSP00000505863.1:p.Glu89Lys | |
| ENST00000680552.1:c.274G>A | ENSP00000506321.1:p.Glu92Lys | |
| ENST00000333511.7:c.622G>A | ENSP00000333769.3:p.Glu208Lys | |
| ENST00000346916.8:c.82G>A | ENSP00000344707.3:p.Glu28Lys | |
| ENST00000353555.8:c.274G>A | ENSP00000343809.4:p.Glu92Lys | |
| ENST00000545507.6:c.-6G>A | ENSP00000473664.1:n.-6G>A | |
| ENST00000571735.2:n.871G>A | ||
| ENST00000572899.5:n.315G>A | ||
| ENST00000573216.5:c.250G>A | ENSP00000458665.1:p.Glu84Lys | |
| ENST00000573784.5:c.-6G>A | ENSP00000473393.1:n.-6G>A | |
| ENST00000576984.2:c.-6G>A | ENSP00000473528.1:n.-6G>A | |
| ENST00000613627.4:c.265G>A | ENSP00000484849.1:p.Glu89Lys | |
| ENST00000614867.2:c.147+849G>A | ENSP00000484624.1:n.147+849G>A | |
| ENST00000618006.4:c.68-218G>A | ENSP00000478958.1:n.68-218G>A | |
| NM_001728.3:c.622G>A | NP_001719.2:p.Glu208Lys | |
| NM_198589.2:c.274G>A | NP_940991.1:p.Glu92Lys | |
| NM_198590.2:c.-6G>A | NP_940992.1:n.-6G>A | |
| NM_198591.2:c.82G>A | NP_940993.1:p.Glu28Lys | |
| XM_005259619.1:c.274G>A | XP_005259676.1:p.Glu92Lys | |
| NM_001322243.1:c.274G>A | NP_001309172.1:p.Glu92Lys | |
| XM_017027173.2:c.622G>A | XP_016882662.1:p.Glu208Lys | |
| NM_001322243.2:c.274G>A | NP_001309172.1:p.Glu92Lys | |
| NM_001728.4:c.622G>A MANE Select | NP_001719.2:p.Glu208Lys | |
| NM_198589.3:c.274G>A | NP_940991.1:p.Glu92Lys | |
| NM_198590.3:c.-6G>A | NP_940992.1:n.-6G>A | |
| NM_198591.3:c.82G>A | NP_940993.1:p.Glu28Lys | |
| NM_198591.4:c.-6G>A | NP_940993.2:n.-6G>A |