Revel Score:
ENST00000313654 (MANE Select)
0.806
ENST00000399516
0.806
ENST00000269217 (MANE Plus Clinical)
0.806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876396G>C , CM000680.2:g.23876396G>C | GRCh38 |
| NC_000018.9:g.21456360G>C , CM000680.1:g.21456360G>C | GRCh37 |
| NC_000018.8:g.19710358G>C | NCBI36 |
| NG_007853.2:g.191799G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.274G>C MANE Plus Clinical | ENSP00000269217.5:p.Gly92Arg | |
| ENST00000313654.14:c.5101G>C MANE Select | ENSP00000324532.8:p.Gly1701Arg | |
| ENST00000649721.1:c.1993G>C | ENSP00000497885.1:p.Gly665Arg | |
| ENST00000269217.10:c.274G>C | ENSP00000269217.5:p.Gly92Arg | |
| ENST00000313654.13:c.5101G>C | ENSP00000324532.8:p.Gly1701Arg | |
| ENST00000399516.7:c.5101G>C | ENSP00000382432.2:p.Gly1701Arg | |
| ENST00000587184.5:c.274G>C | ENSP00000466557.1:p.Gly92Arg | |
| NM_000227.4:c.274G>C | NP_000218.3:p.Gly92Arg | |
| NM_001127717.2:c.5101G>C | NP_001121189.2:p.Gly1701Arg | |
| NM_001127718.2:c.274G>C | NP_001121190.2:p.Gly92Arg | |
| NM_198129.2:c.5101G>C | NP_937762.2:p.Gly1701Arg | |
| XM_011525978.1:c.5128G>C | XP_011524280.1:p.Gly1710Arg | |
| XM_011525979.1:c.5119G>C | XP_011524281.1:p.Gly1707Arg | |
| XM_011525980.1:c.5110G>C | XP_011524282.1:p.Gly1704Arg | |
| XM_011525981.1:c.4996G>C | XP_011524283.1:p.Gly1666Arg | |
| XM_011525982.1:c.5128G>C | XP_011524284.1:p.Gly1710Arg | |
| XM_011525978.2:c.5128G>C | XP_011524280.1:p.Gly1710Arg | |
| XM_011525979.2:c.5119G>C | XP_011524281.1:p.Gly1707Arg | |
| XM_011525980.2:c.5110G>C | XP_011524282.1:p.Gly1704Arg | |
| XM_011525981.2:c.4996G>C | XP_011524283.1:p.Gly1666Arg | |
| XM_011525982.2:c.5128G>C | XP_011524284.1:p.Gly1710Arg | |
| XM_017025743.1:c.2980G>C | XP_016881232.1:p.Gly994Arg | |
| XM_017025744.1:c.670G>C | XP_016881233.1:p.Gly224Arg | |
| XR_001753199.1:n.5369G>C | ||
| NM_000227.5:c.274G>C | NP_000218.3:p.Gly92Arg | |
| NM_001127717.3:c.5101G>C | NP_001121189.2:p.Gly1701Arg | |
| NM_001127718.3:c.274G>C | NP_001121190.2:p.Gly92Arg | |
| NM_198129.3:c.5101G>C | NP_937762.2:p.Gly1701Arg | |
| NM_000227.6:c.274G>C MANE Plus Clinical | NP_000218.3:p.Gly92Arg | |
| NM_001127717.4:c.5101G>C | NP_001121189.2:p.Gly1701Arg | |
| NM_001127718.4:c.274G>C | NP_001121190.2:p.Gly92Arg | |
| NM_198129.4:c.5101G>C MANE Select | NP_937762.2:p.Gly1701Arg |