Revel Score:
ENST00000377939 (MANE Select)
0.065
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6219310G>A , CM000663.2:g.6219310G>A | GRCh38 |
| NC_000001.10:g.6279370G>A , CM000663.1:g.6279370G>A | GRCh37 |
| NC_000001.9:g.6201957G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377939.5:c.1808G>A MANE Select | ENSP00000367173.4:p.Gly603Asp | |
| ENST00000377939.4:c.1808G>A | ENSP00000367173.4:p.Gly603Asp | |
| ENST00000483336.1:n.440G>A | ||
| ENST00000496676.5:n.1525G>A | ||
| NM_207396.2:c.1808G>A | NP_997279.2:p.Gly603Asp | |
| XM_011541439.1:c.1952G>A | XP_011539741.1:p.Gly651Asp | |
| XR_946651.1:n.2301G>A | ||
| XR_946652.1:n.2287G>A | ||
| XM_011541439.3:c.1952G>A | XP_011539741.1:p.Gly651Asp | |
| XM_017001259.2:c.1874G>A | XP_016856748.1:p.Gly625Asp | |
| XR_001737158.2:n.2386G>A | ||
| XR_001737159.2:n.2224G>A | ||
| XR_001737162.2:n.2320G>A | ||
| XR_001737164.2:n.2862G>A | ||
| XR_946651.3:n.2158G>A | ||
| XR_946652.3:n.2144G>A | ||
| NM_207396.3:c.1808G>A MANE Select | NP_997279.2:p.Gly603Asp |