Linked Data
ClinVar Variation Id:
43631
ClinVar RCV Id:
RCV000223847
RCV000788201
RCV000791922
RCV003450691
RCV003450690
RCV003450692
RCV003886369
dbSNP Id:
rs397516459
gnomAD v2:
1-201334409-C-A
gnomAD v4:
1-201365281-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201365281C>A , CM000663.2:g.201365281C>A | GRCh38 |
| NC_000001.10:g.201334409C>A , CM000663.1:g.201334409C>A | GRCh37 |
| NC_000001.9:g.199601032C>A | NCBI36 |
| NG_007556.1:g.17397G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.306G>T | ENSP00000402238.3:p.Lys102Asn | |
| ENST00000367318.10:c.291G>T | ENSP00000356287.5:p.Lys97Asn | |
| ENST00000367322.6:c.288G>T | ENSP00000356291.2:p.Lys96Asn | |
| ENST00000412633.3:c.291G>T | ENSP00000408731.2:p.Lys97Asn | |
| ENST00000422165.6:c.321G>T | ENSP00000395163.2:p.Lys107Asn | |
| ENST00000438742.6:c.273G>T | ENSP00000414036.2:p.Lys91Asn | |
| ENST00000455702.6:c.306G>T | ENSP00000402238.2:p.Lys102Asn | |
| ENST00000651504.1:n.785G>T | ||
| ENST00000656932.1:c.321G>T MANE Select | ENSP00000499593.1:p.Lys107Asn | |
| ENST00000658476.1:c.291G>T | ENSP00000499741.1:p.Lys97Asn | |
| ENST00000660295.1:c.291G>T | ENSP00000499418.1:p.Lys97Asn | |
| ENST00000662159.1:c.162+2497G>T | ENSP00000499796.1:n.162+2497G>T | |
| ENST00000663843.1:c.*221G>T | ENSP00000499590.1:n.*221G>T | |
| ENST00000666449.1:c.291G>T | ENSP00000499667.1:p.Lys97Asn | |
| ENST00000236918.11:c.321G>T | ENSP00000236918.8:p.Lys107Asn | |
| ENST00000360372.8:c.291+329G>T | ENSP00000353535.5:n.291+329G>T | |
| ENST00000367315.6:c.297G>T | ENSP00000356284.3:p.Lys99Asn | |
| ENST00000367317.8:c.276G>T | ENSP00000356286.5:p.Lys92Asn | |
| ENST00000367318.9:c.291G>T | ENSP00000356287.5:p.Lys97Asn | |
| ENST00000367320.6:c.291+329G>T | ENSP00000356289.2:n.291+329G>T | |
| ENST00000367322.5:c.291G>T | ENSP00000356291.1:p.Lys97Asn | |
| ENST00000412633.2:c.288G>T | ENSP00000408731.1:p.Lys96Asn | |
| ENST00000421663.6:c.114G>T | ENSP00000404134.3:p.Lys38Asn | |
| ENST00000422165.5:c.306G>T | ENSP00000395163.1:p.Lys102Asn | |
| ENST00000438742.5:c.276G>T | ENSP00000414036.1:p.Lys92Asn | |
| ENST00000455702.5:c.321G>T | ENSP00000402238.1:p.Lys107Asn | |
| ENST00000458432.6:c.114G>T | ENSP00000387874.3:p.Lys38Asn | |
| ENST00000466570.5:n.547G>T | ||
| ENST00000491504.5:n.1530G>T | ||
| ENST00000503459.1:n.160G>T | ||
| ENST00000509001.5:c.291G>T | ENSP00000422031.1:p.Lys97Asn | |
| ENST00000515042.5:n.217G>T | ||
| NM_000364.3:c.321G>T | NP_000355.2:p.Lys107Asn | |
| NM_001001430.2:c.291G>T | NP_001001430.1:p.Lys97Asn | |
| NM_001001431.2:c.291G>T | NP_001001431.1:p.Lys97Asn | |
| NM_001001432.2:c.276G>T | NP_001001432.1:p.Lys92Asn | |
| NM_001276345.1:c.321G>T | NP_001263274.1:p.Lys107Asn | |
| NM_001276346.1:c.291+329G>T | NP_001263275.1:n.291+329G>T | |
| NM_001276347.1:c.291G>T | NP_001263276.1:p.Lys97Asn | |
| XM_006711508.2:c.291G>T | XP_006711571.1:p.Lys97Asn | |
| XM_006711509.2:c.288G>T | XP_006711572.1:p.Lys96Asn | |
| XM_011509938.1:c.321G>T | XP_011508240.1:p.Lys107Asn | |
| XM_011509939.1:c.318G>T | XP_011508241.1:p.Lys106Asn | |
| XM_011509940.1:c.321G>T | XP_011508242.1:p.Lys107Asn | |
| XM_011509941.1:c.318G>T | XP_011508243.1:p.Lys106Asn | |
| XM_011509942.1:c.276G>T | XP_011508244.1:p.Lys92Asn | |
| XM_011509943.1:c.276G>T | XP_011508245.1:p.Lys92Asn | |
| XM_011509944.1:c.273G>T | XP_011508246.1:p.Lys91Asn | |
| XM_011509945.1:c.321G>T | XP_011508247.1:p.Lys107Asn | |
| XM_011509946.1:c.114G>T | XP_011508248.1:p.Lys38Asn | |
| XM_006711508.3:c.291G>T | XP_006711571.1:p.Lys97Asn | |
| XM_006711509.3:c.288G>T | XP_006711572.1:p.Lys96Asn | |
| XM_011509938.2:c.321G>T | XP_011508240.1:p.Lys107Asn | |
| XM_011509940.2:c.321G>T | XP_011508242.1:p.Lys107Asn | |
| XM_011509941.2:c.318G>T | XP_011508243.1:p.Lys106Asn | |
| XM_011509942.2:c.276G>T | XP_011508244.1:p.Lys92Asn | |
| XM_011509943.2:c.276G>T | XP_011508245.1:p.Lys92Asn | |
| XM_011509944.2:c.273G>T | XP_011508246.1:p.Lys91Asn | |
| XM_017002216.2:c.291G>T | XP_016857705.1:p.Lys97Asn | |
| XM_017002217.1:c.291G>T | XP_016857706.1:p.Lys97Asn | |
| XM_024449450.1:c.321G>T | XP_024305218.1:p.Lys107Asn | |
| XM_024449454.1:c.288G>T | XP_024305222.1:p.Lys96Asn | |
| XM_024449455.1:c.291G>T | XP_024305223.1:p.Lys97Asn | |
| NM_000364.4:c.321G>T | NP_000355.2:p.Lys107Asn | |
| NM_001001430.3:c.291G>T | NP_001001430.1:p.Lys97Asn | |
| NM_001001431.3:c.291G>T | NP_001001431.1:p.Lys97Asn | |
| NM_001001432.3:c.276G>T | NP_001001432.1:p.Lys92Asn | |
| NM_001276345.2:c.321G>T MANE Select | NP_001263274.1:p.Lys107Asn | |
| NM_001276346.2:c.291+329G>T | NP_001263275.1:n.291+329G>T | |
| NM_001276347.2:c.291G>T | NP_001263276.1:p.Lys97Asn |