Linked Data
dbSNP Id:
rs1795717456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155463237G>C , CM000669.2:g.155463237G>C | GRCh38 |
| NC_000007.13:g.155255932G>C , CM000669.1:g.155255932G>C | GRCh37 |
| NC_000007.12:g.154948693G>C | NCBI36 |
| NG_007124.1:g.11518G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297375.4:c.*550G>C MANE Select | ENSP00000297375.4:n.*550G>C | |
| NM_001427.3:c.*550G>C | NP_001418.2:n.*550G>C | |
| NM_001427.4:c.*550G>C MANE Select | NP_001418.2:n.*550G>C |