Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832115A>C , CM000663.2:g.92832115A>C | GRCh38 |
| NC_000001.10:g.93297672A>C , CM000663.1:g.93297672A>C | GRCh37 |
| NC_000001.9:g.93070260A>C | NCBI36 |
| NG_011779.1:g.5079A>C | |
| NG_033051.1:g.134408T>G | |
| NG_011779.2:g.5130A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000969.5:c.1A>C MANE Select | NP_000960.2:p.Met1Leu |
| ENST00000370321.8:c.1A>C MANE Select | ENSP00000359345.2:p.Met1Leu |
| NM_000969.3:c.1A>C | NP_000960.2:p.Met1Leu |
| NR_146333.1:n.130A>C | |
| ENST00000315741.5:c.-284A>C | ENSP00000359338.2:n.-284A>C |
| ENST00000370321.7:c.1A>C | ENSP00000359345.2:p.Met1Leu |
| ENST00000470843.5:c.1A>C | ENSP00000473675.1:p.Met1Leu |
| ENST00000645119.1:c.1A>C | ENSP00000493811.1:p.Met1Leu |
| ENST00000645300.1:c.-80A>C | ENSP00000495589.1:n.-80A>C |
| ENST00000646852.1:n.30A>C |