Linked Data
ClinVar Variation Id:
2760664
ClinVar RCV Id:
RCV003584312
MyVariant Identifiers:
chr5:g.131925427A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589735A>C , CM000667.2:g.132589735A>C | GRCh38 |
| NC_000005.9:g.131925427A>C , CM000667.1:g.131925427A>C | GRCh37 |
| NC_000005.8:g.131953326A>C | NCBI36 |
| NG_021151.1:g.37812A>C | |
| NG_021151.2:g.37759A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1350A>C MANE Select | ENSP00000368100.4:p.Leu450= | |
| ENST00000638452.2:c.1053A>C | ENSP00000492349.2:p.Leu351= | |
| ENST00000638504.1:n.1036A>C | ||
| ENST00000638568.2:c.1053A>C | ENSP00000491158.2:p.Leu351= | |
| ENST00000639899.1:n.1869A>C | ||
| ENST00000640655.2:c.1053A>C | ENSP00000491596.2:p.Leu351= | |
| ENST00000651160.1:c.1350A>C | ENSP00000498829.1:p.Leu450= | |
| ENST00000651541.1:c.1053A>C | ENSP00000498795.1:p.Leu351= | |
| ENST00000651658.1:n.1777A>C | ||
| ENST00000651723.1:c.*1433A>C | ENSP00000498237.1:n.*1433A>C | |
| ENST00000652016.1:c.1350A>C | ENSP00000498267.1:p.Leu450= | |
| ENST00000652485.1:c.1350A>C | ENSP00000498973.1:p.Leu450= | |
| ENST00000378823.7:c.1350A>C | ENSP00000368100.4:p.Leu450= | |
| ENST00000423956.5:c.1350A>C | ENSP00000390971.1:p.Leu450= | |
| ENST00000453394.5:c.1350A>C | ENSP00000400049.1:p.Leu450= | |
| ENST00000533482.5:c.*976A>C | ENSP00000431225.1:n.*976A>C | |
| NM_005732.3:c.1350A>C | NP_005723.2:p.Leu450= | |
| NM_005732.4:c.1350A>C MANE Select | NP_005723.2:p.Leu450= |