Linked Data
ClinVar Variation Id:
1613345
ClinVar RCV Id:
RCV002158232
dbSNP Id:
rs2150673928
MyVariant Identifiers:
chr17:g.6328861T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425541T>C , CM000679.2:g.6425541T>C | GRCh38 |
| NC_000017.10:g.6328861T>C , CM000679.1:g.6328861T>C | GRCh37 |
| NC_000017.9:g.6269585T>C | NCBI36 |
| NG_008474.1:g.14659A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.1074A>G MANE Select | ENSP00000370521.3:p.Pro358= | |
| ENST00000250087.9:c.885A>G | ENSP00000250087.5:p.Pro295= | |
| ENST00000381128.2:c.*946A>G | ENSP00000370520.2:n.*946A>G | |
| ENST00000381129.7:c.1074A>G | ENSP00000370521.3:p.Pro358= | |
| ENST00000570466.5:c.1008A>G | ENSP00000461287.1:p.Pro336= | |
| ENST00000570584.5:c.251+8378A>G | ||
| ENST00000574506.5:c.1038A>G | ENSP00000458456.1:p.Pro346= | |
| ENST00000575265.5:c.*1045A>G | ENSP00000459673.1:n.*1045A>G | |
| ENST00000576307.5:c.894A>G | ENSP00000459522.1:p.Pro298= | |
| ENST00000576776.5:c.1002A>G | ENSP00000460827.1:p.Pro334= | |
| ENST00000621374.4:c.*92A>G | ENSP00000481337.1:n.*92A>G | |
| NM_001033054.2:c.885A>G | NP_001028226.1:p.Pro295= | |
| NM_001033055.2:c.894A>G | NP_001028227.1:p.Pro298= | |
| NM_001285399.2:c.1038A>G | NP_001272328.1:p.Pro346= | |
| NM_001285400.2:c.1008A>G | NP_001272329.1:p.Pro336= | |
| NM_001285401.2:c.1002A>G | NP_001272330.1:p.Pro334= | |
| NM_001285402.1:c.957A>G | NP_001272331.1:p.Pro319= | |
| NM_014336.4:c.1074A>G | NP_055151.3:p.Pro358= | |
| NM_001033054.3:c.885A>G | NP_001028226.1:p.Pro295= | |
| NM_001033055.3:c.894A>G | NP_001028227.1:p.Pro298= | |
| NM_001285399.3:c.1038A>G | NP_001272328.1:p.Pro346= | |
| NM_001285400.3:c.1008A>G | NP_001272329.1:p.Pro336= | |
| NM_001285401.3:c.1002A>G | NP_001272330.1:p.Pro334= | |
| NM_001285402.2:c.957A>G | NP_001272331.1:p.Pro319= | |
| NM_001285403.3:c.*1045A>G | NP_001272332.1:n.*1045A>G | |
| NM_014336.5:c.1074A>G MANE Select | NP_055151.3:p.Pro358= | |
| NM_001285403.4:c.*1045A>G | NP_001272332.1:n.*1045A>G |