Linked Data
ClinVar Variation Id:
3096943
ClinVar RCV Id:
RCV004394796
dbSNP Id:
rs1324225422
gnomAD v4:
1-1048197-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048197A>C , CM000663.2:g.1048197A>C | GRCh38 |
| NC_000001.10:g.983577A>C , CM000663.1:g.983577A>C | GRCh37 |
| NC_000001.9:g.973440A>C | NCBI36 |
| NG_016346.1:g.33075A>C , LRG_198:g.33075A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3937A>C MANE Select | ENSP00000368678.2:p.Thr1313Pro | |
| ENST00000651234.1:c.3622A>C | ENSP00000499046.1:p.Thr1208Pro | |
| ENST00000652369.1:c.3622A>C | ENSP00000498543.1:p.Thr1208Pro | |
| ENST00000379370.6:c.3937A>C | ENSP00000368678.2:p.Thr1313Pro | |
| ENST00000620552.4:c.3523A>C | ENSP00000484607.1:p.Thr1175Pro | |
| NM_001305275.1:c.3937A>C | NP_001292204.1:p.Thr1313Pro | |
| NM_198576.3:c.3937A>C | NP_940978.2:p.Thr1313Pro | |
| XM_005244749.2:c.3937A>C | XP_005244806.1:p.Thr1313Pro | |
| XM_006710635.2:c.3937A>C | XP_006710698.1:p.Thr1313Pro | |
| XM_011541429.1:c.3937A>C | XP_011539731.1:p.Thr1313Pro | |
| XM_011541430.1:c.3064A>C | XP_011539732.1:p.Thr1022Pro | |
| XM_011541431.1:c.2203A>C | XP_011539733.1:p.Thr735Pro | |
| XR_946650.1:n.4004A>C | ||
| NM_001364727.1:c.3622A>C | NP_001351656.1:p.Thr1208Pro | |
| XM_005244749.3:c.3937A>C | XP_005244806.1:p.Thr1313Pro | |
| XM_011541429.2:c.3937A>C | XP_011539731.1:p.Thr1313Pro | |
| XR_946650.2:n.4008A>C | ||
| NM_001305275.2:c.3937A>C | NP_001292204.1:p.Thr1313Pro | |
| NM_198576.4:c.3937A>C MANE Select | NP_940978.2:p.Thr1313Pro | |
| NM_001364727.2:c.3622A>C | NP_001351656.1:p.Thr1208Pro |