Linked Data
ClinVar Variation Id:
800248
ClinVar RCV Id:
RCV000983935
dbSNP Id:
rs62636562
ExAC:
4:4864779 C / T
gnomAD v2:
4-4864779-C-T
gnomAD v3:
4-4863052-C-T
gnomAD v4:
4-4863052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863052C>T , CM000666.2:g.4863052C>T | GRCh38 |
| NC_000004.11:g.4864779C>T , CM000666.1:g.4864779C>T | GRCh37 |
| NC_000004.10:g.4915680C>T | NCBI36 |
| NG_008121.1:g.8388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.821C>T MANE Select | ENSP00000372170.4:p.Ala274Val | |
| ENST00000382723.4:c.821C>T | ENSP00000372170.4:p.Ala274Val | |
| NM_002448.3:c.821C>T MANE Select | NP_002439.2:p.Ala274Val |