Linked Data
ClinVar Variation Id:
1974747
ClinVar RCV Id:
RCV002765777
dbSNP Id:
rs145070278
ExAC:
1:205027193 G / C
gnomAD v2:
1-205027193-G-C
gnomAD v4:
1-205058065-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205058065G>C , CM000663.2:g.205058065G>C | GRCh38 |
| NC_000001.10:g.205027193G>C , CM000663.1:g.205027193G>C | GRCh37 |
| NC_000001.9:g.203293816G>C | NCBI36 |
| NG_033845.1:g.19854G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.215G>C MANE Select | ENSP00000330633.4:p.Arg72Pro | |
| ENST00000532366.2:c.*802G>C | ENSP00000491665.1:n.*802G>C | |
| ENST00000636809.2:n.503G>C | ||
| ENST00000638378.1:c.215G>C | ENSP00000492617.1:p.Arg72Pro | |
| ENST00000639302.1:c.215G>C | ENSP00000491671.1:p.Arg72Pro | |
| ENST00000639971.1:c.215G>C | ENSP00000491959.1:p.Arg72Pro | |
| ENST00000640326.1:c.215G>C | ENSP00000492495.1:p.Arg72Pro | |
| ENST00000640352.1:c.*802G>C | ENSP00000491080.1:n.*802G>C | |
| ENST00000640428.1:c.215G>C | ENSP00000491474.1:p.Arg72Pro | |
| ENST00000331830.4:c.215G>C | ENSP00000330633.4:p.Arg72Pro | |
| ENST00000532366.1:n.328G>C | ||
| NM_005076.3:c.215G>C | NP_005067.1:p.Arg72Pro | |
| XM_011509925.1:c.200G>C | XP_011508227.1:p.Arg67Pro | |
| NM_001346083.1:c.215G>C | NP_001333012.1:p.Arg72Pro | |
| NM_005076.4:c.215G>C | NP_005067.1:p.Arg72Pro | |
| NR_144350.1:n.572G>C | ||
| XM_017002198.1:c.215G>C | XP_016857687.1:p.Arg72Pro | |
| XM_017002199.2:c.200G>C | XP_016857688.1:p.Arg67Pro | |
| XM_024449386.1:c.254G>C | XP_024305154.1:p.Arg85Pro | |
| XM_024449387.1:c.-324G>C | XP_024305155.1:n.-324G>C | |
| XM_024449388.1:c.-324G>C | XP_024305156.1:n.-324G>C | |
| XM_024449389.1:c.254G>C | XP_024305157.1:p.Arg85Pro | |
| NM_005076.5:c.215G>C MANE Select | NP_005067.1:p.Arg72Pro | |
| NM_001346083.2:c.215G>C | NP_001333012.1:p.Arg72Pro | |
| NR_144350.2:n.484G>C |