Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373497C>A , CM000664.2:g.47373497C>A | GRCh38 |
| NC_000002.11:g.47600636C>A , CM000664.1:g.47600636C>A | GRCh37 |
| NC_000002.10:g.47454140C>A | NCBI36 |
| NG_012352.2:g.33335C>A , LRG_215:g.33335C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.111C>A MANE Select | NP_002345.2:p.Asn37Lys |
| ENST00000263735.9:c.111C>A MANE Select | ENSP00000263735.4:p.Asn37Lys |
| NM_002354.2:c.111C>A , LRG_215t1:c.111C>A | NP_002345.2:p.Asn37Lys |
| ENST00000263735.8:c.111C>A | ENSP00000263735.4:p.Asn37Lys |
| ENST00000405271.5:c.195C>A | ENSP00000385476.1:p.Asn65Lys |
| ENST00000419334.1:c.339C>A | ENSP00000389028.1:p.Asn113Lys |
| ENST00000456133.5:c.195C>A | ENSP00000410675.1:p.Asn65Lys |
| ENST00000474691.1:n.142C>A |