Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55953114G>A , CM000666.2:g.55953114G>A | GRCh38 |
| NC_000004.11:g.56819280G>A , CM000666.1:g.56819280G>A | GRCh37 |
| NC_000004.10:g.56514037G>A | NCBI36 |
| NG_032806.1:g.9307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706800.1:n.316G>A | ||
| ENST00000257287.5:c.143G>A MANE Select | ENSP00000257287.3:p.Arg48Gln | |
| ENST00000257287.4:c.143G>A | ENSP00000257287.3:p.Arg48Gln | |
| ENST00000422247.6:c.143G>A | ENSP00000412799.2:p.Arg48Gln | |
| NM_025009.4:c.143G>A | NP_079285.2:p.Arg48Gln | |
| XM_006714055.2:c.143G>A | XP_006714118.1:p.Arg48Gln | |
| XR_941064.1:n.472-643C>T | ||
| XM_005265788.4:c.-925G>A | XP_005265845.1:n.-925G>A | |
| XM_006714055.3:c.143G>A | XP_006714118.1:p.Arg48Gln | |
| NM_025009.5:c.143G>A MANE Select | NP_079285.2:p.Arg48Gln |