Linked Data
ClinVar Variation Id:
2138954
ClinVar RCV Id:
RCV003070707
dbSNP Id:
rs1737528465
gnomAD v4:
15-73368163-C-T
MyVariant Identifiers:
chr15:g.73660504C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73368163C>T , CM000677.2:g.73368163C>T | GRCh38 |
| NC_000015.9:g.73660504C>T , CM000677.1:g.73660504C>T | GRCh37 |
| NC_000015.8:g.71447557C>T | NCBI36 |
| NG_009063.1:g.6102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.108G>A MANE Select | ENSP00000261917.3:p.Gly36= | |
| ENST00000261917.3:c.108G>A | ENSP00000261917.3:p.Gly36= | |
| NM_005477.2:c.108G>A | NP_005468.1:p.Gly36= | |
| NM_005477.3:c.108G>A MANE Select | NP_005468.1:p.Gly36= |