Linked Data
ClinVar Variation Id:
182214
dbSNP Id:
rs730881536
gnomAD v2:
13-32913609-A-C
gnomAD v4:
13-32339472-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339472A>C , CM000675.2:g.32339472A>C | GRCh38 |
| NC_000013.10:g.32913609A>C , CM000675.1:g.32913609A>C | GRCh37 |
| NC_000013.9:g.31811609A>C | NCBI36 |
| NG_012772.3:g.28993A>C , LRG_293:g.28993A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.5117A>C | ENSP00000434898.2:p.Asn1706Thr | |
| ENST00000528762.2:c.5117A>C | ENSP00000433168.2:p.Asn1706Thr | |
| ENST00000530893.7:c.4748A>C | ENSP00000499438.2:p.Asn1583Thr | |
| ENST00000665585.2:c.5117A>C | ENSP00000499570.2:p.Asn1706Thr | |
| ENST00000666593.2:c.5117A>C | ENSP00000499256.2:p.Asn1706Thr | |
| ENST00000700202.2:c.5117A>C | ENSP00000514856.2:p.Asn1706Thr | |
| ENST00000380152.8:c.5117A>C MANE Select | ENSP00000369497.3:p.Asn1706Thr | |
| ENST00000544455.6:c.5117A>C | ENSP00000439902.1:p.Asn1706Thr | |
| ENST00000614259.2:c.5117A>C | ENSP00000506251.1:p.Asn1706Thr | |
| ENST00000680887.1:c.5117A>C | ENSP00000505508.1:p.Asn1706Thr | |
| ENST00000380152.7:c.5117A>C | ENSP00000369497.3:p.Asn1706Thr | |
| ENST00000544455.5:c.5117A>C | ENSP00000439902.1:p.Asn1706Thr | |
| ENST00000614259.1:n.5117A>C | ||
| NM_000059.3:c.5117A>C , LRG_293t1:c.5117A>C | NP_000050.2:p.Asn1706Thr | |
| XM_011535203.1:c.5117A>C | XP_011533505.1:p.Asn1706Thr | |
| XM_011535204.1:c.5117A>C | XP_011533506.1:p.Asn1706Thr | |
| XM_011535205.1:c.5117A>C | XP_011533507.1:p.Asn1706Thr | |
| NM_000059.4:c.5117A>C MANE Select | NP_000050.3:p.Asn1706Thr |