Linked Data
ClinVar Variation Id:
2985208
ClinVar RCV Id:
RCV003848335
gnomAD v4:
15-42945358-A-G
MyVariant Identifiers:
chr15:g.43237556A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42945358A>G , CM000677.2:g.42945358A>G | GRCh38 |
| NC_000015.9:g.43237556A>G , CM000677.1:g.43237556A>G | GRCh37 |
| NC_000015.8:g.41024848A>G | NCBI36 |
| NG_012182.1:g.165731T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.5221T>C MANE Select | ENSP00000290650.4:p.Leu1741= | |
| ENST00000290650.8:c.5221T>C | ENSP00000290650.4:p.Leu1741= | |
| ENST00000562173.1:n.426T>C | ||
| NM_174916.2:c.5221T>C | NP_777576.1:p.Leu1741= | |
| NM_174916.3:c.5221T>C MANE Select | NP_777576.1:p.Leu1741= |