Revel Score:
ENST00000225964 (MANE Select)
0.564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189208T>C , CM000679.2:g.50189208T>C | GRCh38 |
| NC_000017.10:g.48266569T>C , CM000679.1:g.48266569T>C | GRCh37 |
| NC_000017.9:g.45621568T>C | NCBI36 |
| NG_007400.1:g.17432A>G , LRG_1:g.17432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2897A>G MANE Select | ENSP00000225964.6:p.Gln966Arg | |
| ENST00000225964.9:c.2897A>G | ENSP00000225964.5:p.Gln966Arg | |
| NM_000088.3:c.2897A>G , LRG_1t1:c.2897A>G | NP_000079.2:p.Gln966Arg | |
| XM_005257058.3:c.2668-198A>G | XP_005257115.2:n.2668-198A>G | |
| XM_005257059.3:c.1979A>G | XP_005257116.2:p.Gln660Arg | |
| XM_011524341.1:c.2699A>G | XP_011522643.1:p.Gln900Arg | |
| XM_005257058.4:c.2668-198A>G | XP_005257115.2:n.2668-198A>G | |
| XM_005257059.4:c.1979A>G | XP_005257116.2:p.Gln660Arg | |
| NM_000088.4:c.2897A>G MANE Select | NP_000079.2:p.Gln966Arg |