Linked Data
ClinVar Variation Id:
1362212
ClinVar RCV Id:
RCV001900070
dbSNP Id:
rs1374506568
gnomAD v2:
4-44680679-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44678662G>C , CM000666.2:g.44678662G>C | GRCh38 |
| NC_000004.11:g.44680679G>C , CM000666.1:g.44680679G>C | GRCh37 |
| NC_000004.10:g.44375436G>C | NCBI36 |
| NG_051569.1:g.5268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.40G>C MANE Select | ENSP00000281543.5:p.Ala14Pro | |
| ENST00000281543.5:c.40G>C | ENSP00000281543.5:p.Ala14Pro | |
| ENST00000506793.5:n.159+77G>C | ||
| ENST00000513775.1:c.40G>C | ENSP00000422681.1:p.Ala14Pro | |
| NM_021927.2:c.40G>C | NP_068746.2:p.Ala14Pro | |
| XM_005248122.2:c.-821G>C | XP_005248179.1:n.-821G>C | |
| XM_011513732.1:c.40G>C | XP_011512034.1:p.Ala14Pro | |
| XM_011513733.1:c.15+77G>C | XP_011512035.1:n.15+77G>C | |
| XM_011513734.1:c.40G>C | XP_011512036.1:p.Ala14Pro | |
| NM_001345867.1:c.-929G>C | NP_001332796.1:n.-929G>C | |
| NM_001345868.1:c.40G>C | NP_001332797.1:p.Ala14Pro | |
| NM_001345869.1:c.-821G>C | NP_001332798.1:n.-821G>C | |
| XM_024454178.1:c.15+77G>C | XP_024309946.1:n.15+77G>C | |
| NM_021927.3:c.40G>C MANE Select | NP_068746.2:p.Ala14Pro | |
| NM_001345867.2:c.-929G>C | NP_001332796.1:n.-929G>C | |
| NM_001345868.2:c.40G>C | NP_001332797.1:p.Ala14Pro | |
| NM_001345869.2:c.-821G>C | NP_001332798.1:n.-821G>C |