Linked Data
dbSNP Id:
rs202114011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585180T>G , CM000673.2:g.67585180T>G | GRCh38 |
| NC_000011.9:g.67352651T>G , CM000673.1:g.67352651T>G | GRCh37 |
| NC_000011.8:g.67109227T>G | NCBI36 |
| NG_012075.1:g.6586T>G , LRG_723:g.6586T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.275T>G | ENSP00000381604.1:p.Met92Arg | |
| ENST00000398606.10:c.275T>G MANE Select | ENSP00000381607.3:p.Met92Arg | |
| ENST00000646888.1:c.168T>G | ENSP00000494477.1:p.His56Gln | |
| ENST00000398603.5:c.275T>G | ENSP00000381604.1:p.Met92Arg | |
| ENST00000398606.7:c.275T>G | ENSP00000381607.3:p.Met92Arg | |
| ENST00000467591.1:n.386T>G | ||
| ENST00000494593.1:n.1070T>G | ||
| ENST00000498765.5:c.338T>G | ||
| NM_000852.3:c.275T>G , LRG_723t1:c.275T>G | NP_000843.1:p.Met92Arg | |
| NM_000852.4:c.275T>G MANE Select | NP_000843.1:p.Met92Arg |