Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228059184T>G , CM000663.2:g.228059184T>G | GRCh38 |
| NC_000001.10:g.228246885T>G , CM000663.1:g.228246885T>G | GRCh37 |
| NC_000001.9:g.226313508T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033131.4:c.778T>G MANE Select | NP_149122.1:p.Tyr260Asp |
| ENST00000284523.2:c.778T>G MANE Select | ENSP00000284523.1:p.Tyr260Asp |
| NM_033131.3:c.778T>G | NP_149122.1:p.Tyr260Asp |
| ENST00000284523.1:c.778T>G | ENSP00000284523.1:p.Tyr260Asp |
| XM_011544319.1:c.778T>G | XP_011542621.1:p.Tyr260Asp |
| XM_011544319.3:c.778T>G | XP_011542621.1:p.Tyr260Asp |
| XM_011544320.1:c.778T>G | XP_011542622.1:p.Tyr260Asp |