Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96327597G>A , CM000672.2:g.96327597G>A | GRCh38 |
| NC_000010.10:g.98087354G>A , CM000672.1:g.98087354G>A | GRCh37 |
| NC_000010.9:g.98077344G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004088.4:c.1004G>A MANE Select | NP_004079.3:p.Arg335Gln |
| ENST00000371174.5:c.1004G>A MANE Select | ENSP00000360216.2:p.Arg335Gln |
| NM_001017520.1:c.1004G>A | NP_001017520.1:p.Arg335Gln |
| NM_001017520.2:c.1004G>A | NP_001017520.1:p.Arg335Gln |
| NM_004088.3:c.1004G>A | NP_004079.3:p.Arg335Gln |
| ENST00000371174.4:c.1004G>A | ENSP00000360216.2:p.Arg335Gln |
| ENST00000630152.1:c.1004G>A | ENSP00000486733.1:p.Arg335Gln |
| XM_011539420.1:c.875-1128G>A | XP_011537722.1:n.875-1128G>A |