Linked Data
ClinVar Variation Id:
9329
ClinVar RCV Id:
RCV000009916
RCV000034427
RCV000120303
RCV000130720
RCV000207052
RCV000320173
RCV000260146
RCV000468776
RCV000768560
RCV002476952
dbSNP Id:
rs144848
ExAC:
13:32906729 A / C
gnomAD v2:
13-32906729-A-C
gnomAD v3:
13-32332592-A-C
gnomAD v4:
13-32332592-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332592A>C , CM000675.2:g.32332592A>C | GRCh38 |
| NC_000013.10:g.32906729A>C , CM000675.1:g.32906729A>C | GRCh37 |
| NC_000013.9:g.31804729A>C | NCBI36 |
| NG_012772.3:g.22113A>C , LRG_293:g.22113A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.1114A>C | ENSP00000434898.2:p.Asn372His | |
| ENST00000528762.2:c.1114A>C | ENSP00000433168.2:p.Asn372His | |
| ENST00000530893.7:c.745A>C | ENSP00000499438.2:p.Asn249His | |
| ENST00000665585.2:c.1114A>C | ENSP00000499570.2:p.Asn372His | |
| ENST00000666593.2:c.1114A>C | ENSP00000499256.2:p.Asn372His | |
| ENST00000700202.2:c.1114A>C | ENSP00000514856.2:p.Asn372His | |
| ENST00000700201.1:c.*893A>C | ENSP00000514855.1:n.*893A>C | |
| ENST00000380152.8:c.1114A>C MANE Select | ENSP00000369497.3:p.Asn372His | |
| ENST00000544455.6:c.1114A>C | ENSP00000439902.1:p.Asn372His | |
| ENST00000614259.2:c.1114A>C | ENSP00000506251.1:p.Asn372His | |
| ENST00000680887.1:c.1114A>C | ENSP00000505508.1:p.Asn372His | |
| ENST00000380152.7:c.1114A>C | ENSP00000369497.3:p.Asn372His | |
| ENST00000530893.6:n.1312A>C | ||
| ENST00000544455.5:c.1114A>C | ENSP00000439902.1:p.Asn372His | |
| ENST00000614259.1:n.1114A>C | ||
| NM_000059.3:c.1114A>C , LRG_293t1:c.1114A>C | NP_000050.2:p.Asn372His | |
| XM_011535203.1:c.1114A>C | XP_011533505.1:p.Asn372His | |
| XM_011535204.1:c.1114A>C | XP_011533506.1:p.Asn372His | |
| XM_011535205.1:c.1114A>C | XP_011533507.1:p.Asn372His | |
| NM_000059.4:c.1114A>C MANE Select | NP_000050.3:p.Asn372His |