Linked Data
ClinVar Variation Id:
538104
ClinVar RCV Id:
RCV000647273
dbSNP Id:
rs1555475972
gnomAD v4:
15-73329606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329606G>A , CM000677.2:g.73329606G>A | GRCh38 |
| NC_000015.9:g.73621947G>A , CM000677.1:g.73621947G>A | GRCh37 |
| NC_000015.8:g.71409000G>A | NCBI36 |
| NG_009063.1:g.44659C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1557C>T MANE Select | ENSP00000261917.3:p.Ser519= | |
| ENST00000261917.3:c.1557C>T | ENSP00000261917.3:p.Ser519= | |
| NM_005477.2:c.1557C>T | NP_005468.1:p.Ser519= | |
| XM_011521148.1:c.339C>T | XP_011519450.1:p.Ser113= | |
| XM_011521148.2:c.339C>T | XP_011519450.1:p.Ser113= | |
| NM_005477.3:c.1557C>T MANE Select | NP_005468.1:p.Ser519= |