Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010289G>A , CM000664.2:g.189010289G>A | GRCh38 |
| NC_000002.11:g.189875015G>A , CM000664.1:g.189875015G>A | GRCh37 |
| NC_000002.10:g.189583260G>A | NCBI36 |
| NG_007404.1:g.40917G>A , LRG_3:g.40917G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.3935G>A MANE Select | NP_000081.2:p.Arg1312Gln |
| ENST00000304636.9:c.3935G>A MANE Select | ENSP00000304408.4:p.Arg1312Gln |
| NM_000090.3:c.3935G>A , LRG_3t1:c.3935G>A | NP_000081.1:p.Arg1312Gln |
| ENST00000304636.7:c.3935G>A | ENSP00000304408.3:p.Arg1312Gln |
| ENST00000317840.9:c.3026G>A | ENSP00000315243.6:p.Arg1009Gln |
| ENST00000450867.2:c.3836G>A | ENSP00000415346.2:p.Arg1279Gln |
| ENST00000487010.1:n.1032G>A |