Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354307G>A , CM000666.2:g.40354307G>A | GRCh38 |
| NC_000004.11:g.40356324G>A , CM000666.1:g.40356324G>A | GRCh37 |
| NC_000004.10:g.40051081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310169.3:c.1227G>A MANE Select | ENSP00000312663.2:p.Lys409= | |
| ENST00000310169.2:c.1227G>A | ENSP00000312663.2:p.Lys409= | |
| NM_017581.3:c.1227G>A | NP_060051.2:p.Lys409= | |
| NM_017581.4:c.1227G>A MANE Select | NP_060051.2:p.Lys409= |