Linked Data
dbSNP Id:
rs2052474634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595044T>C , CM000679.2:g.56595044T>C | GRCh38 |
| NC_000017.10:g.54672405T>C , CM000679.1:g.54672405T>C | GRCh37 |
| NC_000017.9:g.52027404T>C | NCBI36 |
| NG_011958.1:g.6346T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*122T>C MANE Select | ENSP00000328181.4:n.*122T>C | |
| ENST00000332822.4:c.*122T>C | ENSP00000328181.4:n.*122T>C | |
| NM_005450.4:c.*122T>C | NP_005441.1:n.*122T>C | |
| NM_005450.6:c.*122T>C MANE Select | NP_005441.1:n.*122T>C |