Linked Data
ClinVar Variation Id:
2384241
ClinVar RCV Id:
RCV004222000
dbSNP Id:
rs368874989
gnomAD v2:
2-224462531-T-A
gnomAD v3:
2-223597813-T-A
gnomAD v4:
2-223597813-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223597813T>A , CM000664.2:g.223597813T>A | GRCh38 |
| NC_000002.11:g.224462531T>A , CM000664.1:g.224462531T>A | GRCh37 |
| NC_000002.10:g.224170775T>A | NCBI36 |
| NG_027998.1:g.9687A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305409.3:c.1470A>T MANE Select | ENSP00000304133.2:p.Arg490Ser | |
| ENST00000305409.2:c.1470A>T | ENSP00000304133.2:p.Arg490Ser | |
| NM_003469.4:c.1470A>T | NP_003460.2:p.Arg490Ser | |
| NM_003469.5:c.1470A>T MANE Select | NP_003460.2:p.Arg490Ser |