Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76348195A>G , CM000674.2:g.76348195A>G | GRCh38 |
| NC_000012.11:g.76741975A>G , CM000674.1:g.76741975A>G | GRCh37 |
| NC_000012.10:g.75266106A>G | NCBI36 |
| NG_016357.1:g.5248T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024685.4:c.164T>C MANE Select | NP_078961.3:p.Leu55Pro |
| ENST00000650064.2:c.164T>C MANE Select | ENSP00000497413.1:p.Leu55Pro |
| NM_024685.3:c.164T>C | NP_078961.3:p.Leu55Pro |
| ENST00000393262.3:c.164T>C | ENSP00000376946.3:p.Leu55Pro |