Linked Data
ClinVar Variation Id:
2366049
ClinVar RCV Id:
RCV004202417
dbSNP Id:
rs140282949
ExAC:
2:224462331 T / A
gnomAD v2:
2-224462331-T-A
gnomAD v3:
2-223597613-T-A
gnomAD v4:
2-223597613-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223597613T>A , CM000664.2:g.223597613T>A | GRCh38 |
| NC_000002.11:g.224462331T>A , CM000664.1:g.224462331T>A | GRCh37 |
| NC_000002.10:g.224170575T>A | NCBI36 |
| NG_027998.1:g.9887A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305409.3:c.1670A>T MANE Select | ENSP00000304133.2:p.Gln557Leu | |
| ENST00000305409.2:c.1670A>T | ENSP00000304133.2:p.Gln557Leu | |
| NM_003469.4:c.1670A>T | NP_003460.2:p.Gln557Leu | |
| NM_003469.5:c.1670A>T MANE Select | NP_003460.2:p.Gln557Leu |