Linked Data
ClinVar Variation Id:
969178
ClinVar RCV Id:
RCV001244465
dbSNP Id:
rs552517556
gnomAD v4:
1-94031836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031836G>A , CM000663.2:g.94031836G>A | GRCh38 |
| NC_000001.10:g.94497392G>A , CM000663.1:g.94497392G>A | GRCh37 |
| NC_000001.9:g.94269980G>A | NCBI36 |
| NG_009073.1:g.94314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4070C>T MANE Select | ENSP00000359245.3:p.Ala1357Val | |
| ENST00000370225.3:c.4070C>T | ENSP00000359245.3:p.Ala1357Val | |
| ENST00000536513.5:c.446C>T | ENSP00000439707.2:p.Ala149Val | |
| NM_000350.2:c.4070C>T | NP_000341.2:p.Ala1357Val | |
| NM_000350.3:c.4070C>T MANE Select | NP_000341.2:p.Ala1357Val |