Linked Data
ClinVar Variation Id:
221940
ClinVar RCV Id:
RCV000207381
dbSNP Id:
rs869025259
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69941305G>A , CM000665.2:g.69941305G>A | GRCh38 |
| NC_000003.11:g.69990456G>A , CM000665.1:g.69990456G>A | GRCh37 |
| NC_000003.10:g.70073146G>A | NCBI36 |
| NG_011631.1:g.206824G>A , LRG_776:g.206824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.688G>A | ENSP00000324443.5:p.Asp230Asn | |
| ENST00000687384.1:c.685G>A | ENSP00000510225.1:p.Asp229Asn | |
| ENST00000689390.1:n.910G>A | ||
| ENST00000693031.1:c.661G>A | ENSP00000509845.1:p.Asp221Asn | |
| ENST00000693549.1:c.688G>A | ENSP00000509358.1:p.Asp230Asn | |
| ENST00000314589.10:c.688G>A | ENSP00000324443.5:p.Asp230Asn | |
| ENST00000352241.9:c.736G>A MANE Select | ENSP00000295600.8:p.Asp246Asn | |
| ENST00000394351.9:c.415G>A MANE Plus Clinical | ENSP00000377880.3:p.Asp139Asn | |
| ENST00000448226.9:c.733G>A | ENSP00000391803.3:p.Asp245Asn | |
| ENST00000642352.1:c.736G>A | ENSP00000494105.1:p.Asp246Asn | |
| ENST00000314557.10:c.415G>A | ENSP00000324246.6:p.Asp139Asn | |
| ENST00000314589.9:c.688G>A | ENSP00000324443.5:p.Asp230Asn | |
| ENST00000328528.10:c.733G>A | ENSP00000327867.6:p.Asp245Asn | |
| ENST00000352241.8:c.736G>A | ENSP00000295600.7:p.Asp246Asn | |
| ENST00000394351.7:c.415G>A | ENSP00000377880.3:p.Asp139Asn | |
| ENST00000433517.5:c.412G>A | ENSP00000411389.1:p.Asp138Asn | |
| ENST00000448226.6:c.736G>A | ENSP00000391803.2:p.Asp246Asn | |
| ENST00000451708.5:c.688G>A | ENSP00000398639.1:p.Asp230Asn | |
| ENST00000461014.1:n.726G>A | ||
| ENST00000472437.5:c.580G>A | ENSP00000418845.1:p.Asp194Asn | |
| ENST00000478490.5:c.*62G>A | ENSP00000433487.1:n.*62G>A | |
| ENST00000531774.1:c.247G>A | ENSP00000435909.1:p.Asp83Asn | |
| NM_000248.3:c.415G>A , LRG_776t1:c.415G>A | NP_000239.1:p.Asp139Asn | |
| NM_001184967.1:c.580G>A | NP_001171896.1:p.Asp194Asn | |
| NM_006722.2:c.733G>A | NP_006713.1:p.Asp245Asn | |
| NM_198158.2:c.415G>A | NP_937801.1:p.Asp139Asn | |
| NM_198159.2:c.736G>A | NP_937802.1:p.Asp246Asn | |
| NM_198177.2:c.688G>A | NP_937820.1:p.Asp230Asn | |
| NM_198178.2:c.247G>A | NP_937821.2:p.Asp83Asn | |
| XM_005264754.1:c.736G>A | XP_005264811.1:p.Asp246Asn | |
| XM_005264755.2:c.688G>A | XP_005264812.1:p.Asp230Asn | |
| XM_006713164.2:c.580G>A | XP_006713227.1:p.Asp194Asn | |
| XM_011533722.1:c.733G>A | XP_011532024.1:p.Asp245Asn | |
| XM_011533723.1:c.685G>A | XP_011532025.1:p.Asp229Asn | |
| XM_011533724.1:c.580G>A | XP_011532026.1:p.Asp194Asn | |
| XM_011533725.1:c.568G>A | XP_011532027.1:p.Asp190Asn | |
| XM_011533726.1:c.568G>A | XP_011532028.1:p.Asp190Asn | |
| NM_001354604.1:c.736G>A | NP_001341533.1:p.Asp246Asn | |
| NM_001354605.1:c.733G>A | NP_001341534.1:p.Asp245Asn | |
| NM_001354606.1:c.733G>A | NP_001341535.1:p.Asp245Asn | |
| NM_001354607.1:c.685G>A | NP_001341536.1:p.Asp229Asn | |
| NM_001354608.1:c.580G>A | NP_001341537.1:p.Asp194Asn | |
| NM_001184967.2:c.580G>A | NP_001171896.1:p.Asp194Asn | |
| NM_001354604.2:c.736G>A MANE Select | NP_001341533.1:p.Asp246Asn | |
| NM_001354605.2:c.733G>A | NP_001341534.1:p.Asp245Asn | |
| NM_001354606.2:c.733G>A | NP_001341535.1:p.Asp245Asn | |
| NM_001354607.2:c.685G>A | NP_001341536.1:p.Asp229Asn | |
| NM_001354608.2:c.580G>A | NP_001341537.1:p.Asp194Asn | |
| NM_198158.3:c.415G>A | NP_937801.1:p.Asp139Asn | |
| NM_198159.3:c.736G>A | NP_937802.1:p.Asp246Asn | |
| NM_198177.3:c.688G>A | NP_937820.1:p.Asp230Asn | |
| NM_198178.3:c.247G>A | NP_937821.2:p.Asp83Asn | |
| NM_000248.4:c.415G>A MANE Plus Clinical | NP_000239.1:p.Asp139Asn | |
| NM_006722.3:c.733G>A | NP_006713.1:p.Asp245Asn |