Linked Data
ClinVar Variation Id:
38248
ClinVar RCV Id:
RCV000031831
RCV000045855
RCV000162692
RCV000735629
RCV000758980
RCV001083417
RCV001109312
RCV001357124
dbSNP Id:
rs55939572
ExAC:
13:32906571 A / C
gnomAD v2:
13-32906571-A-C
gnomAD v3:
13-32332434-A-C
gnomAD v4:
13-32332434-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332434A>C , CM000675.2:g.32332434A>C | GRCh38 |
| NC_000013.10:g.32906571A>C , CM000675.1:g.32906571A>C | GRCh37 |
| NC_000013.9:g.31804571A>C | NCBI36 |
| NG_012772.3:g.21955A>C , LRG_293:g.21955A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.956A>C | ENSP00000434898.2:p.Asn319Thr | |
| ENST00000528762.2:c.956A>C | ENSP00000433168.2:p.Asn319Thr | |
| ENST00000530893.7:c.587A>C | ENSP00000499438.2:p.Asn196Thr | |
| ENST00000665585.2:c.956A>C | ENSP00000499570.2:p.Asn319Thr | |
| ENST00000666593.2:c.956A>C | ENSP00000499256.2:p.Asn319Thr | |
| ENST00000700202.2:c.956A>C | ENSP00000514856.2:p.Asn319Thr | |
| ENST00000700201.1:c.*735A>C | ENSP00000514855.1:n.*735A>C | |
| ENST00000380152.8:c.956A>C MANE Select | ENSP00000369497.3:p.Asn319Thr | |
| ENST00000544455.6:c.956A>C | ENSP00000439902.1:p.Asn319Thr | |
| ENST00000614259.2:c.956A>C | ENSP00000506251.1:p.Asn319Thr | |
| ENST00000680887.1:c.956A>C | ENSP00000505508.1:p.Asn319Thr | |
| ENST00000380152.7:c.956A>C | ENSP00000369497.3:p.Asn319Thr | |
| ENST00000530893.6:n.1154A>C | ||
| ENST00000544455.5:c.956A>C | ENSP00000439902.1:p.Asn319Thr | |
| ENST00000614259.1:n.956A>C | ||
| NM_000059.3:c.956A>C , LRG_293t1:c.956A>C | NP_000050.2:p.Asn319Thr | |
| XM_011535203.1:c.956A>C | XP_011533505.1:p.Asn319Thr | |
| XM_011535204.1:c.956A>C | XP_011533506.1:p.Asn319Thr | |
| XM_011535205.1:c.956A>C | XP_011533507.1:p.Asn319Thr | |
| NM_000059.4:c.956A>C MANE Select | NP_000050.3:p.Asn319Thr |