Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265237C>G , CM000664.2:g.96265237C>G | GRCh38 |
| NC_000002.11:g.96930975C>G , CM000664.1:g.96930975C>G | GRCh37 |
| NC_000002.10:g.96294702C>G | NCBI36 |
| NG_027695.1:g.5777G>C , LRG_528:g.5777G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.145G>C MANE Select | ENSP00000258439.3:p.Ala49Pro | |
| ENST00000258439.7:c.145G>C | ENSP00000258439.2:p.Ala49Pro | |
| ENST00000432959.1:c.145G>C | ENSP00000416660.1:p.Ala49Pro | |
| NM_001193304.2:c.145G>C | NP_001180233.1:p.Ala49Pro | |
| NM_017849.3:c.145G>C , LRG_528t1:c.145G>C | NP_060319.1:p.Ala49Pro | |
| NM_001193304.3:c.145G>C | NP_001180233.1:p.Ala49Pro | |
| NM_017849.4:c.145G>C MANE Select | NP_060319.1:p.Ala49Pro |