Linked Data
ClinVar Variation Id:
1744582
ClinVar RCV Id:
RCV002342940
gnomAD v4:
15-73367773-C-T
MyVariant Identifiers:
chr15:g.73660114C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367773C>T , CM000677.2:g.73367773C>T | GRCh38 |
| NC_000015.9:g.73660114C>T , CM000677.1:g.73660114C>T | GRCh37 |
| NC_000015.8:g.71447167C>T | NCBI36 |
| NG_009063.1:g.6492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.498G>A MANE Select | ENSP00000261917.3:p.Pro166= | |
| ENST00000261917.3:c.498G>A | ENSP00000261917.3:p.Pro166= | |
| NM_005477.2:c.498G>A | NP_005468.1:p.Pro166= | |
| NM_005477.3:c.498G>A MANE Select | NP_005468.1:p.Pro166= |