Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55964288A>C , CM000666.2:g.55964288A>C | GRCh38 |
| NC_000004.11:g.56830454A>C , CM000666.1:g.56830454A>C | GRCh37 |
| NC_000004.10:g.56525211A>C | NCBI36 |
| NG_032806.1:g.20481A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257287.5:c.714A>C MANE Select | ENSP00000257287.3:p.Glu238Asp | |
| ENST00000257287.4:c.714A>C | ENSP00000257287.3:p.Glu238Asp | |
| ENST00000515081.1:n.348A>C | ||
| NM_025009.4:c.714A>C | NP_079285.2:p.Glu238Asp | |
| XM_006714055.2:c.714A>C | XP_006714118.1:p.Glu238Asp | |
| XR_941064.1:n.471+6485T>G | ||
| XM_005265788.4:c.-354A>C | XP_005265845.1:n.-354A>C | |
| XM_006714055.3:c.714A>C | XP_006714118.1:p.Glu238Asp | |
| NM_025009.5:c.714A>C MANE Select | NP_079285.2:p.Glu238Asp |