Linked Data
ClinVar Variation Id:
313209
ClinVar RCV Id:
RCV000271250
RCV000585067
RCV000763932
RCV001820928
RCV001843509
RCV001770252
RCV002255362
RCV004537778
dbSNP Id:
rs142864437
ExAC:
14:45644816 A / C
gnomAD v2:
14-45644816-A-C
gnomAD v3:
14-45175613-A-C
gnomAD v4:
14-45175613-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45175613A>C , CM000676.2:g.45175613A>C | GRCh38 |
| NC_000014.8:g.45644816A>C , CM000676.1:g.45644816A>C | GRCh37 |
| NC_000014.7:g.44714566A>C | NCBI36 |
| NG_007417.1:g.44681A>C , LRG_502:g.44681A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.1071A>C | ENSP00000450632.2:p.Lys357Asn | |
| ENST00000556250.6:c.2652A>C | ENSP00000452033.2:p.Lys884Asn | |
| ENST00000696641.1:c.2700A>C | ENSP00000512774.1:p.Lys900Asn | |
| ENST00000696642.1:c.*1670A>C | ENSP00000512775.1:n.*1670A>C | |
| ENST00000696646.1:c.*1670A>C | ENSP00000512777.1:n.*1670A>C | |
| ENST00000696647.1:c.2859A>C | ENSP00000512778.1:p.Lys953Asn | |
| ENST00000696648.1:c.*884A>C | ENSP00000512779.1:n.*884A>C | |
| ENST00000696649.1:c.2703A>C | ENSP00000512780.1:p.Lys901Asn | |
| ENST00000696650.1:n.2807A>C | ||
| ENST00000696659.1:c.857A>C | ||
| ENST00000696663.1:c.1676A>C | ||
| ENST00000696664.1:c.1676A>C | ||
| ENST00000696675.1:c.2859A>C | ENSP00000512799.1:p.Lys953Asn | |
| ENST00000696683.1:c.1676A>C | ||
| ENST00000696684.1:c.1676A>C | ||
| ENST00000696685.1:c.1676A>C | ||
| ENST00000267430.10:c.2859A>C MANE Select | ENSP00000267430.5:p.Lys953Asn | |
| ENST00000267430.9:c.2859A>C | ENSP00000267430.5:p.Lys953Asn | |
| ENST00000542564.6:c.2781A>C | ENSP00000442493.2:p.Lys927Asn | |
| ENST00000556250.5:c.1407A>C | ENSP00000452033.1:p.Lys469Asn | |
| NM_001308133.1:c.2781A>C | NP_001295062.1:p.Lys927Asn | |
| NM_020937.2:c.2859A>C , LRG_502t1:c.2859A>C | NP_065988.1:p.Lys953Asn | |
| NM_020937.3:c.2859A>C | NP_065988.1:p.Lys953Asn | |
| XM_011537034.1:c.2859A>C | XP_011535336.1:p.Lys953Asn | |
| XM_011537035.1:c.2781A>C | XP_011535337.1:p.Lys927Asn | |
| XM_011537036.1:c.2859A>C | XP_011535338.1:p.Lys953Asn | |
| XM_011537037.1:c.873A>C | XP_011535339.1:p.Lys291Asn | |
| XM_011537034.2:c.2859A>C | XP_011535336.1:p.Lys953Asn | |
| XM_011537035.3:c.2781A>C | XP_011535337.1:p.Lys927Asn | |
| XM_011537037.3:c.873A>C | XP_011535339.1:p.Lys291Asn | |
| XM_017021523.1:c.2859A>C | XP_016877012.1:p.Lys953Asn | |
| XM_017021524.2:c.1896A>C | XP_016877013.1:p.Lys632Asn | |
| XM_017021525.2:c.1674A>C | XP_016877014.1:p.Lys558Asn | |
| XM_017021526.2:c.1674A>C | XP_016877015.1:p.Lys558Asn | |
| XM_017021527.1:c.1674A>C | XP_016877016.1:p.Lys558Asn | |
| XR_001750470.1:n.2951A>C | ||
| XR_001750471.2:n.2951A>C | ||
| XR_001750472.1:n.2951A>C | ||
| NM_020937.4:c.2859A>C MANE Select | NP_065988.1:p.Lys953Asn | |
| NM_001308133.2:c.2781A>C | NP_001295062.1:p.Lys927Asn |