Linked Data
dbSNP Id:
rs1809943273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992742A>G , CM000670.2:g.16992742A>G | GRCh38 |
| NC_000008.10:g.16850251A>G , CM000670.1:g.16850251A>G | GRCh37 |
| NC_000008.9:g.16894622A>G | NCBI36 |
| NG_015978.1:g.14424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*330T>C MANE Select | ENSP00000180166.5:n.*330T>C | |
| ENST00000180166.5:c.*330T>C | ENSP00000180166.5:n.*330T>C | |
| NM_019851.3:c.*330T>C MANE Select | NP_062825.1:n.*330T>C |