Linked Data
dbSNP Id:
rs2129321374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107717502C>T , CM000669.2:g.107717502C>T | GRCh38 |
| NC_000007.13:g.107357947C>T , CM000669.1:g.107357947C>T | GRCh37 |
| NC_000007.12:g.107145183C>T | NCBI36 |
| NG_008489.1:g.61868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.*2056C>T MANE Select | ENSP00000494017.1:n.*2056C>T | |
| ENST00000265715.7:c.*2056C>T | ENSP00000265715.3:n.*2056C>T | |
| NM_000441.1:c.*2056C>T | NP_000432.1:n.*2056C>T | |
| NM_000441.2:c.*2056C>T MANE Select | NP_000432.1:n.*2056C>T |