Revel Score:
ENST00000334270 (MANE Select)
0.147
ENST00000245588
0.147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132400157T>C , CM000671.2:g.132400157T>C | GRCh38 |
| NC_000009.11:g.135275544T>C , CM000671.1:g.135275544T>C | GRCh37 |
| NC_000009.10:g.134265365T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334270.3:c.1469A>G MANE Select | ENSP00000333920.2:p.Asp490Gly | |
| ENST00000334270.2:c.1469A>G | ENSP00000333920.2:p.Asp490Gly | |
| ENST00000612514.4:c.-77A>G | ENSP00000481441.1:n.-77A>G | |
| NM_001205296.1:c.-77A>G | NP_001192225.1:n.-77A>G | |
| NM_007344.3:c.1469A>G | NP_031370.2:p.Asp490Gly | |
| XM_006717273.2:c.1469A>G | XP_006717336.2:p.Asp490Gly | |
| XR_246601.2:n.1558A>G | ||
| XR_929838.1:n.1550A>G | ||
| NR_134525.1:n.1538A>G | ||
| XM_006717273.4:c.1469A>G | XP_006717336.2:p.Asp490Gly | |
| NM_007344.4:c.1469A>G MANE Select | NP_031370.2:p.Asp490Gly | |
| NR_134525.2:n.1527A>G | ||
| NM_001205296.2:c.-77A>G | NP_001192225.1:n.-77A>G |