Linked Data
ClinVar Variation Id:
1671348
ClinVar RCV Id:
RCV002198831
dbSNP Id:
rs2151214056
gnomAD v4:
15-73322919-G-A
MyVariant Identifiers:
chr15:g.73615260G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322919G>A , CM000677.2:g.73322919G>A | GRCh38 |
| NC_000015.9:g.73615260G>A , CM000677.1:g.73615260G>A | GRCh37 |
| NC_000015.8:g.71402313G>A | NCBI36 |
| NG_009063.1:g.51346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3174C>T MANE Select | ENSP00000261917.3:p.Ser1058= | |
| ENST00000261917.3:c.3174C>T | ENSP00000261917.3:p.Ser1058= | |
| NM_005477.2:c.3174C>T | NP_005468.1:p.Ser1058= | |
| XM_011521148.1:c.1956C>T | XP_011519450.1:p.Ser652= | |
| XM_011521148.2:c.1956C>T | XP_011519450.1:p.Ser652= | |
| NM_005477.3:c.3174C>T MANE Select | NP_005468.1:p.Ser1058= |