Revel Score:
ENST00000375499 (MANE Select)
0.445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028680G>C , CM000663.2:g.17028680G>C | GRCh38 |
| NC_000001.10:g.17355175G>C , CM000663.1:g.17355175G>C | GRCh37 |
| NC_000001.9:g.17227762G>C | NCBI36 |
| NG_012340.1:g.30491C>G , LRG_316:g.30491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.172C>G | ENSP00000481376.2:p.Arg58Gly | |
| ENST00000491274.6:c.301C>G | ENSP00000480482.2:p.Arg101Gly | |
| ENST00000375499.8:c.343C>G MANE Select | ENSP00000364649.3:p.Arg115Gly | |
| ENST00000375499.7:c.343C>G | ENSP00000364649.3:p.Arg115Gly | |
| ENST00000463045.2:c.172C>G | ENSP00000481376.1:p.Arg58Gly | |
| ENST00000475506.1:n.260C>G | ||
| ENST00000485515.5:n.331C>G | ||
| ENST00000491274.5:c.301C>G | ENSP00000480482.1:p.Arg101Gly | |
| NM_003000.2:c.343C>G , LRG_316t1:c.343C>G | NP_002991.2:p.Arg115Gly | |
| NM_003000.3:c.343C>G MANE Select | NP_002991.2:p.Arg115Gly |