Linked Data
ClinVar Variation Id:
835514
ClinVar RCV Id:
RCV001036407
dbSNP Id:
rs1770416806
gnomAD v4:
6-63788218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788218G>A , CM000668.2:g.63788218G>A | GRCh38 |
| NC_000006.11:g.64498111G>A , CM000668.1:g.64498111G>A | GRCh37 |
| NC_000006.10:g.64556070G>A | NCBI36 |
| NG_023443.1:g.1924008C>T | |
| NG_023443.2:g.1924008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7610C>T MANE Select | ENSP00000424243.1:p.Ala2537Val | |
| ENST00000370616.6:c.7610C>T | ENSP00000359650.2:p.Ala2537Val | |
| ENST00000370618.7:c.7610C>T | ENSP00000359652.4:p.Ala2537Val | |
| ENST00000370621.7:c.7610C>T | ENSP00000359655.3:p.Ala2537Val | |
| ENST00000398580.3:c.924C>T | ||
| ENST00000486069.1:n.250C>T | ||
| ENST00000503581.5:c.7610C>T | ENSP00000424243.1:p.Ala2537Val | |
| NM_001142800.1:c.7610C>T | NP_001136272.1:p.Ala2537Val | |
| NM_001292009.1:c.7610C>T | NP_001278938.1:p.Ala2537Val | |
| NM_001142800.2:c.7610C>T MANE Select | NP_001136272.1:p.Ala2537Val | |
| NM_001292009.2:c.7610C>T | NP_001278938.1:p.Ala2537Val |