Linked Data
ClinVar Variation Id:
2158151
ClinVar RCV Id:
RCV003069618
dbSNP Id:
rs1310453028
gnomAD v2:
11-118963961-G-A
gnomAD v4:
11-119093251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093251G>A , CM000673.2:g.119093251G>A | GRCh38 |
| NC_000011.9:g.118963961G>A , CM000673.1:g.118963961G>A | GRCh37 |
| NC_000011.8:g.118469171G>A | NCBI36 |
| NG_008093.1:g.13375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.889G>A | ENSP00000509288.1:p.Asp297Asn | |
| ENST00000691144.1:n.3269G>A | ||
| ENST00000691249.1:n.1878G>A | ||
| ENST00000442944.7:c.1036G>A | ENSP00000392041.3:p.Asp346Asn | |
| ENST00000640813.1:c.*291G>A | ENSP00000491061.1:n.*291G>A | |
| ENST00000648026.1:c.948G>A | ENSP00000498044.1:n.948G>A | |
| ENST00000648374.1:c.1003G>A | ENSP00000497255.1:p.Asp335Asn | |
| ENST00000650101.1:c.985G>A | ENSP00000496970.1:p.Asp329Asn | |
| ENST00000650307.1:n.1880G>A | ||
| ENST00000652429.1:c.1054G>A MANE Select | ENSP00000498786.1:p.Asp352Asn | |
| ENST00000278715.7:c.1054G>A | ENSP00000278715.3:p.Asp352Asn | |
| ENST00000392841.1:c.1003G>A | ENSP00000376584.1:p.Asp335Asn | |
| ENST00000442944.6:c.1003G>A | ENSP00000392041.2:p.Asp335Asn | |
| ENST00000537841.5:c.1003G>A | ENSP00000444730.1:p.Asp335Asn | |
| ENST00000539045.1:n.553G>A | ||
| ENST00000542044.5:n.1499G>A | ||
| ENST00000542729.5:c.883G>A | ENSP00000443058.1:p.Asp295Asn | |
| ENST00000543090.5:c.961G>A | ENSP00000445429.1:p.Asp321Asn | |
| ENST00000543543.5:n.1529G>A | ||
| ENST00000544182.1:n.1503G>A | ||
| ENST00000544387.5:c.934G>A | ENSP00000438424.1:p.Asp312Asn | |
| ENST00000546226.5:n.1816G>A | ||
| NM_000190.3:c.1054G>A | NP_000181.2:p.Asp352Asn | |
| NM_001024382.1:c.1003G>A | NP_001019553.1:p.Asp335Asn | |
| NM_001258208.1:c.934G>A | NP_001245137.1:p.Asp312Asn | |
| NM_001258209.1:c.883G>A | NP_001245138.1:p.Asp295Asn | |
| XM_005271531.1:c.1003G>A | XP_005271588.1:p.Asp335Asn | |
| XM_005271532.1:c.1003G>A | XP_005271589.1:p.Asp335Asn | |
| XM_005271533.2:c.1000G>A | XP_005271590.1:p.Asp334Asn | |
| XM_011542796.1:c.889G>A | XP_011541098.1:p.Asp297Asn | |
| NM_000190.4:c.1054G>A MANE Select | NP_000181.2:p.Asp352Asn | |
| NM_001024382.2:c.1003G>A | NP_001019553.1:p.Asp335Asn | |
| XM_005271533.3:c.1000G>A | XP_005271590.1:p.Asp334Asn | |
| XM_017017629.1:c.1003G>A | XP_016873118.1:p.Asp335Asn | |
| XM_024448460.1:c.880G>A | XP_024304228.1:p.Asp294Asn | |
| NM_001258208.2:c.934G>A | NP_001245137.1:p.Asp312Asn | |
| NM_001258209.2:c.883G>A | NP_001245138.1:p.Asp295Asn |