Linked Data
ClinVar Variation Id:
1285313
dbSNP Id:
rs6447368
ExAC:
4:44682465 T / C
gnomAD v2:
4-44682465-T-C
gnomAD v3:
4-44680448-T-C
gnomAD v4:
4-44680448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44680448T>C , CM000666.2:g.44680448T>C | GRCh38 |
| NC_000004.11:g.44682465T>C , CM000666.1:g.44682465T>C | GRCh37 |
| NC_000004.10:g.44377222T>C | NCBI36 |
| NG_051569.1:g.7054T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.173T>C MANE Select | ENSP00000281543.5:p.Leu58Pro | |
| ENST00000281543.5:c.173T>C | ENSP00000281543.5:p.Leu58Pro | |
| ENST00000506793.5:n.160-246T>C | ||
| ENST00000513775.1:c.166-246T>C | ENSP00000422681.1:n.166-246T>C | |
| NM_021927.2:c.173T>C | NP_068746.2:p.Leu58Pro | |
| XM_005248122.2:c.-695-246T>C | XP_005248179.1:n.-695-246T>C | |
| XM_011513732.1:c.173T>C | XP_011512034.1:p.Leu58Pro | |
| XM_011513733.1:c.23T>C | XP_011512035.1:p.Leu8Pro | |
| XM_011513734.1:c.173T>C | XP_011512036.1:p.Leu58Pro | |
| NM_001345867.1:c.-796T>C | NP_001332796.1:n.-796T>C | |
| NM_001345868.1:c.173T>C | NP_001332797.1:p.Leu58Pro | |
| NM_001345869.1:c.-695-246T>C | NP_001332798.1:n.-695-246T>C | |
| XM_024454178.1:c.23T>C | XP_024309946.1:p.Leu8Pro | |
| NM_021927.3:c.173T>C MANE Select | NP_068746.2:p.Leu58Pro | |
| NM_001345867.2:c.-796T>C | NP_001332796.1:n.-796T>C | |
| NM_001345868.2:c.173T>C | NP_001332797.1:p.Leu58Pro | |
| NM_001345869.2:c.-695-246T>C | NP_001332798.1:n.-695-246T>C |