Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832116T>G , CM000663.2:g.92832116T>G | GRCh38 |
| NC_000001.10:g.93297673T>G , CM000663.1:g.93297673T>G | GRCh37 |
| NC_000001.9:g.93070261T>G | NCBI36 |
| NG_011779.1:g.5080T>G | |
| NG_033051.1:g.134407A>C | |
| NG_011779.2:g.5131T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000969.5:c.2T>G MANE Select | NP_000960.2:p.Met1Arg |
| ENST00000370321.8:c.2T>G MANE Select | ENSP00000359345.2:p.Met1Arg |
| NM_000969.3:c.2T>G | NP_000960.2:p.Met1Arg |
| NR_146333.1:n.131T>G | |
| ENST00000315741.5:c.-283T>G | ENSP00000359338.2:n.-283T>G |
| ENST00000370321.7:c.2T>G | ENSP00000359345.2:p.Met1Arg |
| ENST00000470843.5:c.2T>G | ENSP00000473675.1:p.Met1Arg |
| ENST00000645119.1:c.2T>G | ENSP00000493811.1:p.Met1Arg |
| ENST00000645300.1:c.-79T>G | ENSP00000495589.1:n.-79T>G |
| ENST00000646852.1:n.31T>G |