Linked Data
dbSNP Id:
rs747947334
gnomAD v2:
5-1213643-G-A
gnomAD v3:
5-1213528-G-A
gnomAD v4:
5-1213528-G-A
COSMIC:
COSM1060037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213528G>A , CM000667.2:g.1213528G>A | GRCh38 |
| NC_000005.9:g.1213643G>A , CM000667.1:g.1213643G>A | GRCh37 |
| NC_000005.8:g.1266643G>A | NCBI36 |
| NG_008282.1:g.16934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.729G>A MANE Select | ENSP00000305302.10:p.Thr243= | |
| ENST00000304460.10:c.729G>A | ENSP00000305302.10:p.Thr243= | |
| ENST00000515652.5:c.637G>A | ENSP00000425701.1:p.Ala213Thr | |
| NM_001003841.2:c.729G>A | NP_001003841.1:p.Thr243= | |
| NM_001003841.3:c.729G>A MANE Select | NP_001003841.1:p.Thr243= |