Linked Data
ClinVar Variation Id:
425306
ClinVar RCV Id:
RCV000487777
dbSNP Id:
rs1064797296
gnomAD v2:
3-123066658-C-A
COSMIC:
COSM1037322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123347811C>A , CM000665.2:g.123347811C>A | GRCh38 |
| NC_000003.11:g.123066658C>A , CM000665.1:g.123066658C>A | GRCh37 |
| NC_000003.10:g.124549348C>A | NCBI36 |
| NG_033882.1:g.105735G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.54G>T | ENSP00000420082.2:p.Lys18Asn | |
| ENST00000470367.2:c.342G>T | ENSP00000514541.1:p.Lys114Asn | |
| ENST00000483566.2:c.54G>T | ENSP00000420252.2:p.Lys18Asn | |
| ENST00000699714.1:c.54G>T | ENSP00000514539.1:p.Lys18Asn | |
| ENST00000699715.1:c.54G>T | ENSP00000514540.1:p.Lys18Asn | |
| ENST00000699716.1:c.54G>T | ENSP00000514542.1:p.Lys18Asn | |
| ENST00000699718.1:c.1377G>T | ENSP00000514543.1:p.Lys459Asn | |
| ENST00000462833.6:c.1377G>T MANE Select | ENSP00000419361.1:p.Lys459Asn | |
| ENST00000309879.9:c.327G>T | ENSP00000308685.5:p.Lys109Asn | |
| ENST00000462833.5:c.1377G>T | ENSP00000419361.1:p.Lys459Asn | |
| ENST00000466617.5:c.54G>T | ENSP00000420082.1:p.Lys18Asn | |
| ENST00000476455.1:c.*44G>T | ENSP00000417789.1:n.*44G>T | |
| ENST00000483566.1:c.54G>T | ENSP00000420252.1:p.Lys18Asn | |
| ENST00000491190.5:c.276G>T | ENSP00000418537.1:p.Lys92Asn | |
| NM_001199642.1:c.327G>T | NP_001186571.1:p.Lys109Asn | |
| NM_183357.2:c.1377G>T | NP_899200.1:p.Lys459Asn | |
| XM_005247077.2:c.1377G>T | XP_005247134.1:p.Lys459Asn | |
| XM_005247078.1:c.327G>T | XP_005247135.1:p.Lys109Asn | |
| XM_006713483.1:c.276G>T | XP_006713546.1:p.Lys92Asn | |
| XM_006713484.1:c.54G>T | XP_006713547.1:p.Lys18Asn | |
| XM_011512358.1:c.1377G>T | XP_011510660.1:p.Lys459Asn | |
| XM_011512359.1:c.378G>T | XP_011510661.1:p.Lys126Asn | |
| XM_011512360.1:c.288G>T | XP_011510662.1:p.Lys96Asn | |
| XM_011512361.1:c.54G>T | XP_011510663.1:p.Lys18Asn | |
| XM_005247077.4:c.1377G>T | XP_005247134.1:p.Lys459Asn | |
| XM_011512359.2:c.378G>T | XP_011510661.1:p.Lys126Asn | |
| XM_011512360.3:c.288G>T | XP_011510662.1:p.Lys96Asn | |
| XM_017005638.1:c.279G>T | XP_016861127.1:p.Lys93Asn | |
| XM_017005639.1:c.279G>T | XP_016861128.1:p.Lys93Asn | |
| NM_001378259.1:c.1377G>T | NP_001365188.1:p.Lys459Asn | |
| NM_183357.3:c.1377G>T MANE Select | NP_899200.1:p.Lys459Asn |