Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8570604C>T , CM000685.2:g.8570604C>T | GRCh38 |
| NC_000023.10:g.8538645C>T , CM000685.1:g.8538645C>T | GRCh37 |
| NC_000023.9:g.8498645C>T | NCBI36 |
| NG_007088.1:g.166583G>A | |
| NG_007088.2:g.166583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.957G>A MANE Select | ENSP00000262648.3:p.Glu319= | |
| ENST00000262648.7:c.957G>A | ENSP00000262648.3:p.Glu319= | |
| ENST00000488294.1:n.47G>A | ||
| ENST00000619786.1:c.954G>A | ENSP00000478734.1:p.Glu318= | |
| NM_000216.2:c.957G>A | NP_000207.2:p.Glu319= | |
| XM_005274501.3:c.957G>A | XP_005274558.1:p.Glu319= | |
| NM_000216.3:c.957G>A | NP_000207.2:p.Glu319= | |
| XM_005274501.4:c.957G>A | XP_005274558.1:p.Glu319= | |
| NM_000216.4:c.957G>A MANE Select | NP_000207.2:p.Glu319= |