Linked Data
ClinVar Variation Id:
1905159
ClinVar RCV Id:
RCV002580662
dbSNP Id:
rs2042921895
gnomAD v3:
15-73329734-G-A
gnomAD v4:
15-73329734-G-A
MyVariant Identifiers:
chr15:g.73622075G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329734G>A , CM000677.2:g.73329734G>A | GRCh38 |
| NC_000015.9:g.73622075G>A , CM000677.1:g.73622075G>A | GRCh37 |
| NC_000015.8:g.71409128G>A | NCBI36 |
| NG_009063.1:g.44531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1429C>T MANE Select | ENSP00000261917.3:p.Leu477= | |
| ENST00000261917.3:c.1429C>T | ENSP00000261917.3:p.Leu477= | |
| NM_005477.2:c.1429C>T | NP_005468.1:p.Leu477= | |
| XM_011521148.1:c.211C>T | XP_011519450.1:p.Leu71= | |
| XM_011521148.2:c.211C>T | XP_011519450.1:p.Leu71= | |
| NM_005477.3:c.1429C>T MANE Select | NP_005468.1:p.Leu477= |