Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119401902G>A , CM000665.2:g.119401902G>A | GRCh38 |
| NC_000003.11:g.119120749G>A , CM000665.1:g.119120749G>A | GRCh37 |
| NC_000003.10:g.120603439G>A | NCBI36 |
| NG_007665.2:g.112530G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020754.4:c.1150G>A MANE Select | NP_065805.2:p.Gly384Ser |
| ENST00000264245.9:c.1150G>A MANE Select | ENSP00000264245.4:p.Gly384Ser |
| NM_020754.3:c.1150G>A | NP_065805.2:p.Gly384Ser |
| ENST00000264245.8:c.1150G>A | ENSP00000264245.4:p.Gly384Ser |
| XM_005247671.3:c.1057G>A | XP_005247728.1:p.Gly353Ser |
| XM_006713714.2:c.1090G>A | XP_006713777.1:p.Gly364Ser |
| XM_006713714.3:c.1090G>A | XP_006713777.1:p.Gly364Ser |
| XM_017006955.1:c.658G>A | XP_016862444.1:p.Gly220Ser |