Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.5441201A>G , CM000667.2:g.5441201A>G | GRCh38 |
| NC_000005.9:g.5441314A>G , CM000667.1:g.5441314A>G | GRCh37 |
| NC_000005.8:g.5494314A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296564.9:c.287A>G MANE Select | ENSP00000296564.7:p.Lys96Arg | |
| ENST00000296564.8:c.287A>G | ENSP00000296564.7:p.Lys96Arg | |
| ENST00000512608.5:c.56A>G | ENSP00000485617.1:p.Lys19Arg | |
| NM_015325.2:c.287A>G | NP_056140.1:p.Lys96Arg | |
| XM_011513999.1:c.287A>G | XP_011512301.1:p.Lys96Arg | |
| XR_925602.1:n.530A>G | ||
| XM_011513999.2:c.287A>G | XP_011512301.1:p.Lys96Arg | |
| XM_017009285.2:c.-621A>G | XP_016864774.1:n.-621A>G | |
| XR_001742051.1:n.530A>G | ||
| NM_015325.3:c.287A>G MANE Select | NP_056140.1:p.Lys96Arg |