Linked Data
ClinVar Variation Id:
412791
ClinVar RCV Id:
RCV001408620
dbSNP Id:
rs1060503837
gnomAD v4:
15-73329654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329654G>A , CM000677.2:g.73329654G>A | GRCh38 |
| NC_000015.9:g.73621995G>A , CM000677.1:g.73621995G>A | GRCh37 |
| NC_000015.8:g.71409048G>A | NCBI36 |
| NG_009063.1:g.44611C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1509C>T MANE Select | ENSP00000261917.3:p.Ala503= | |
| ENST00000261917.3:c.1509C>T | ENSP00000261917.3:p.Ala503= | |
| NM_005477.2:c.1509C>T | NP_005468.1:p.Ala503= | |
| XM_011521148.1:c.291C>T | XP_011519450.1:p.Ala97= | |
| XM_011521148.2:c.291C>T | XP_011519450.1:p.Ala97= | |
| NM_005477.3:c.1509C>T MANE Select | NP_005468.1:p.Ala503= |