Revel Score:
ENST00000371712 (MANE Select)
0.669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136432505T>C , CM000671.2:g.136432505T>C | GRCh38 |
| NC_000009.11:g.139326957T>C , CM000671.1:g.139326957T>C | GRCh37 |
| NC_000009.10:g.138446778T>C | NCBI36 |
| NG_016126.1:g.12300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1361A>G MANE Select | ENSP00000360777.3:p.Asp454Gly | |
| ENST00000676019.1:c.1259A>G | ENSP00000501984.1:p.Asp420Gly | |
| ENST00000371712.3:c.1361A>G | ENSP00000360777.3:p.Asp454Gly | |
| NM_019892.4:c.1361A>G | NP_063945.2:p.Asp454Gly | |
| XM_005266094.2:c.1358A>G | XP_005266151.1:p.Asp453Gly | |
| XR_929828.1:n.1801A>G | ||
| NM_001318502.1:c.1358A>G | NP_001305431.1:p.Asp453Gly | |
| NM_019892.5:c.1361A>G | NP_063945.2:p.Asp454Gly | |
| XM_017014926.1:c.1361A>G | XP_016870415.1:p.Asp454Gly | |
| XR_929828.2:n.1803A>G | ||
| NM_019892.6:c.1361A>G MANE Select | NP_063945.2:p.Asp454Gly | |
| NM_001318502.2:c.1358A>G | NP_001305431.1:p.Asp453Gly |