Linked Data
ClinVar Variation Id:
2450262
ClinVar RCV Id:
RCV003176810
dbSNP Id:
rs2043135698
gnomAD v4:
15-73367768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367768G>A , CM000677.2:g.73367768G>A | GRCh38 |
| NC_000015.9:g.73660109G>A , CM000677.1:g.73660109G>A | GRCh37 |
| NC_000015.8:g.71447162G>A | NCBI36 |
| NG_009063.1:g.6497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.503C>T MANE Select | ENSP00000261917.3:p.Pro168Leu | |
| ENST00000261917.3:c.503C>T | ENSP00000261917.3:p.Pro168Leu | |
| NM_005477.2:c.503C>T | NP_005468.1:p.Pro168Leu | |
| NM_005477.3:c.503C>T MANE Select | NP_005468.1:p.Pro168Leu |