Linked Data
dbSNP Id:
rs1746394394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63960155G>T , CM000667.2:g.63960155G>T | GRCh38 |
| NC_000005.9:g.63255982G>T , CM000667.1:g.63255982G>T | GRCh37 |
| NC_000005.8:g.63291738G>T | NCBI36 |
| NG_032816.1:g.7138C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.*296C>A MANE Select | ENSP00000316244.4:n.*296C>A | |
| NM_000524.3:c.*296C>A | NP_000515.2:n.*296C>A | |
| NM_000524.4:c.*296C>A MANE Select | NP_000515.2:n.*296C>A |