Linked Data
ClinVar Variation Id:
1359074
ClinVar RCV Id:
RCV001904317
dbSNP Id:
rs1281982868
gnomAD v2:
1-94487252-C-T
gnomAD v3:
1-94021696-C-T
gnomAD v4:
1-94021696-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021696C>T , CM000663.2:g.94021696C>T | GRCh38 |
| NC_000001.10:g.94487252C>T , CM000663.1:g.94487252C>T | GRCh37 |
| NC_000001.9:g.94259840C>T | NCBI36 |
| NG_009073.1:g.104454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4792G>A MANE Select | ENSP00000359245.3:p.Ala1598Thr | |
| ENST00000370225.3:c.4792G>A | ENSP00000359245.3:p.Ala1598Thr | |
| ENST00000460514.1:n.286G>A | ||
| ENST00000536513.5:c.1168G>A | ENSP00000439707.2:p.Ala390Thr | |
| NM_000350.2:c.4792G>A | NP_000341.2:p.Ala1598Thr | |
| NM_000350.3:c.4792G>A MANE Select | NP_000341.2:p.Ala1598Thr |