Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385686G= , CM000679.2:g.44385686G= | GRCh38 |
| NC_000017.10:g.42463054G= , CM000679.1:g.42463054G= | GRCh37 |
| NC_000017.9:g.39818580G= | NCBI36 |
| NG_008331.1:g.8820C= , LRG_479:g.8820C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.439C= MANE Select | NP_000410.2:p.Leu147= |
| ENST00000262407.6:c.439C= MANE Select | ENSP00000262407.5:p.Leu147= |
| NM_000419.3:c.439C= , LRG_479t1:c.439C= | NP_000410.2:p.Leu147= |
| NM_000419.4:c.439C= | NP_000410.2:p.Leu147= |
| ENST00000262407.5:c.439C= | ENSP00000262407.5:p.Leu147= |
| ENST00000592944.1:n.124C= | |
| XM_011524749.1:c.439C= | XP_011523051.1:p.Leu147= |
| XM_011524750.1:c.439C= | XP_011523052.1:p.Leu147= |