Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42035302G>A , CM000666.2:g.42035302G>A | GRCh38 |
| NC_000004.11:g.42037319G>A , CM000666.1:g.42037319G>A | GRCh37 |
| NC_000004.10:g.41732076G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264451.12:c.638G>A MANE Select | ENSP00000264451.6:p.Arg213Lys | |
| ENST00000264451.11:c.638G>A | ENSP00000264451.6:p.Arg213Lys | |
| ENST00000513699.5:c.*395G>A | ENSP00000423529.1:n.*395G>A | |
| NM_006345.3:c.638G>A | NP_006336.3:p.Arg213Lys | |
| XM_011513620.1:c.638G>A | XP_011511922.1:p.Arg213Lys | |
| XM_017007654.2:c.638G>A | XP_016863143.1:p.Arg213Lys | |
| XR_001741095.2:n.788G>A | ||
| NM_006345.4:c.638G>A MANE Select | NP_006336.3:p.Arg213Lys |