Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55953202A>T , CM000666.2:g.55953202A>T | GRCh38 |
| NC_000004.11:g.56819368A>T , CM000666.1:g.56819368A>T | GRCh37 |
| NC_000004.10:g.56514125A>T | NCBI36 |
| NG_032806.1:g.9395A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025009.5:c.231A>T MANE Select | NP_079285.2:p.Arg77Ser |
| ENST00000257287.5:c.231A>T MANE Select | ENSP00000257287.3:p.Arg77Ser |
| NM_025009.4:c.231A>T | NP_079285.2:p.Arg77Ser |
| ENST00000257287.4:c.231A>T | ENSP00000257287.3:p.Arg77Ser |
| ENST00000422247.6:c.231A>T | ENSP00000412799.2:p.Arg77Ser |
| ENST00000706800.1:n.404A>T | |
| XM_005265788.4:c.-837A>T | XP_005265845.1:n.-837A>T |
| XM_006714055.2:c.231A>T | XP_006714118.1:p.Arg77Ser |
| XM_006714055.3:c.231A>T | XP_006714118.1:p.Arg77Ser |
| XR_941064.1:n.472-731T>A |