Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698409C>G , CM000668.2:g.42698409C>G | GRCh38 |
| NC_000006.11:g.42666147C>G , CM000668.1:g.42666147C>G | GRCh37 |
| NC_000006.10:g.42774125C>G | NCBI36 |
| NG_009176.1:g.29212G>C | |
| NG_009176.2:g.29212G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.927G>C MANE Select | NP_000313.2:p.Glu309Asp |
| ENST00000230381.7:c.927G>C MANE Select | ENSP00000230381.5:p.Glu309Asp |
| NM_000322.4:c.927G>C | NP_000313.2:p.Glu309Asp |
| ENST00000230381.6:c.927G>C | ENSP00000230381.5:p.Glu309Asp |
| XR_926295.3:n.1814G>C |