Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369506A>G , CM000664.2:g.47369506A>G | GRCh38 |
| NC_000002.11:g.47596645A>G , CM000664.1:g.47596645A>G | GRCh37 |
| NC_000002.10:g.47450149A>G | NCBI36 |
| NG_012352.2:g.29344A>G , LRG_215:g.29344A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.1A>G MANE Select | NP_002345.2:p.Met1Val |
| ENST00000263735.9:c.1A>G MANE Select | ENSP00000263735.4:p.Met1Val |
| NM_002354.2:c.1A>G , LRG_215t1:c.1A>G | NP_002345.2:p.Met1Val |
| ENST00000263735.8:c.1A>G | ENSP00000263735.4:p.Met1Val |
| ENST00000405271.5:c.160+271A>G | ENSP00000385476.1:n.160+271A>G |
| ENST00000419334.1:c.1A>G | ENSP00000389028.1:p.Met1Val |
| ENST00000456133.5:c.160+271A>G | ENSP00000410675.1:n.160+271A>G |
| ENST00000474691.1:n.32A>G |