Linked Data
dbSNP Id:
rs1481613282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96392138A>C , CM000667.2:g.96392138A>C | GRCh38 |
| NC_000005.9:g.95727842A>C , CM000667.1:g.95727842A>C | GRCh37 |
| NC_000005.8:g.95753598A>C | NCBI36 |
| NG_021161.1:g.46144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.*863T>G MANE Select | ENSP00000308024.2:n.*863T>G | |
| ENST00000311106.7:c.*863T>G | ENSP00000308024.2:n.*863T>G | |
| NM_000439.4:c.*863T>G | NP_000430.3:n.*863T>G | |
| NM_001177875.1:c.*863T>G | NP_001171346.1:n.*863T>G | |
| NR_130776.1:n.354+12486A>C | ||
| NM_000439.5:c.*863T>G MANE Select | NP_000430.3:n.*863T>G | |
| NM_001177875.2:c.*863T>G | NP_001171346.1:n.*863T>G |