Linked Data
ClinVar Variation Id:
1967034
ClinVar RCV Id:
RCV002745665
dbSNP Id:
rs1173252857
gnomAD v3:
16-1984355-C-T
gnomAD v4:
16-1984355-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984355C>T , CM000678.2:g.1984355C>T | GRCh38 |
| NC_000016.9:g.2034356C>T , CM000678.1:g.2034356C>T | GRCh37 |
| NC_000016.8:g.1974357C>T | NCBI36 |
| NG_016288.1:g.5207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248114.7:c.137C>T MANE Select | ENSP00000248114.6:p.Ala46Val | |
| ENST00000248114.6:c.137C>T | ENSP00000248114.6:p.Ala46Val | |
| ENST00000561710.1:c.98C>T | ENSP00000456189.1:p.Ala33Val | |
| ENST00000565658.1:n.24C>T | ||
| ENST00000569451.1:c.137C>T | ENSP00000456432.1:p.Ala46Val | |
| NM_005262.2:c.137C>T | NP_005253.3:p.Ala46Val | |
| NM_005262.3:c.137C>T MANE Select | NP_005253.3:p.Ala46Val |