Linked Data
ClinVar Variation Id:
1540114
ClinVar RCV Id:
RCV002177049
dbSNP Id:
rs2151213694
gnomAD v4:
15-73322523-G-A
MyVariant Identifiers:
chr15:g.73614864G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322523G>A , CM000677.2:g.73322523G>A | GRCh38 |
| NC_000015.9:g.73614864G>A , CM000677.1:g.73614864G>A | GRCh37 |
| NC_000015.8:g.71401917G>A | NCBI36 |
| NG_009063.1:g.51742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3570C>T MANE Select | ENSP00000261917.3:p.Ala1190= | |
| ENST00000261917.3:c.3570C>T | ENSP00000261917.3:p.Ala1190= | |
| NM_005477.2:c.3570C>T | NP_005468.1:p.Ala1190= | |
| XM_011521148.1:c.2352C>T | XP_011519450.1:p.Ala784= | |
| XM_011521148.2:c.2352C>T | XP_011519450.1:p.Ala784= | |
| NM_005477.3:c.3570C>T MANE Select | NP_005468.1:p.Ala1190= |