Linked Data
dbSNP Id:
rs1829125729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93953415C>G , CM000671.2:g.93953415C>G | GRCh38 |
| NC_000009.11:g.96715697C>G , CM000671.1:g.96715697C>G | GRCh37 |
| NC_000009.10:g.95755518C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-228G>C MANE Select | ENSP00000253968.5:n.224-228G>C | |
| ENST00000253968.10:c.224-228G>C | ENSP00000253968.5:n.224-228G>C | |
| ENST00000401724.1:c.-467G>C | ENSP00000385613.1:n.-467G>C | |
| NM_021570.3:c.224-228G>C | NP_067545.3:n.224-228G>C | |
| NM_021570.4:c.224-228G>C MANE Select | NP_067545.3:n.224-228G>C |