Linked Data
dbSNP Id:
rs1829125750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93953417T>C , CM000671.2:g.93953417T>C | GRCh38 |
| NC_000009.11:g.96715699T>C , CM000671.1:g.96715699T>C | GRCh37 |
| NC_000009.10:g.95755520T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-230A>G MANE Select | ENSP00000253968.5:n.224-230A>G | |
| ENST00000253968.10:c.224-230A>G | ENSP00000253968.5:n.224-230A>G | |
| ENST00000401724.1:c.-469A>G | ENSP00000385613.1:n.-469A>G | |
| NM_021570.3:c.224-230A>G | NP_067545.3:n.224-230A>G | |
| NM_021570.4:c.224-230A>G MANE Select | NP_067545.3:n.224-230A>G |