Linked Data
ClinVar Variation Id:
451443
dbSNP Id:
rs749577985
gnomAD v2:
2-241813475-G-A
gnomAD v3:
2-240874058-G-A
gnomAD v4:
2-240874058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874058G>A , CM000664.2:g.240874058G>A | GRCh38 |
| NC_000002.11:g.241813475G>A , CM000664.1:g.241813475G>A | GRCh37 |
| NC_000002.10:g.241462148G>A | NCBI36 |
| NG_008005.1:g.10314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.676G>A MANE Select | ENSP00000302620.3:p.Ala226Thr | |
| ENST00000307503.3:c.676G>A | ENSP00000302620.3:p.Ala226Thr | |
| ENST00000476698.1:n.332+1009G>A | ||
| NM_000030.2:c.676G>A | NP_000021.1:p.Ala226Thr | |
| NM_000030.3:c.676G>A MANE Select | NP_000021.1:p.Ala226Thr |