Revel Score:
ENST00000313654 (MANE Select)
0.640
ENST00000399516
0.640
ENST00000269217 (MANE Plus Clinical)
0.640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928148C>G , CM000680.2:g.23928148C>G | GRCh38 |
| NC_000018.9:g.21508112C>G , CM000680.1:g.21508112C>G | GRCh37 |
| NC_000018.8:g.19762110C>G | NCBI36 |
| NG_007853.2:g.243551C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.3376C>G MANE Plus Clinical | ENSP00000269217.5:p.Arg1126Gly | |
| ENST00000313654.14:c.8203C>G MANE Select | ENSP00000324532.8:p.Arg2735Gly | |
| ENST00000649721.1:c.4798C>G | ENSP00000497885.1:p.Arg1600Gly | |
| ENST00000269217.10:c.3376C>G | ENSP00000269217.5:p.Arg1126Gly | |
| ENST00000313654.13:c.8203C>G | ENSP00000324532.8:p.Arg2735Gly | |
| ENST00000399516.7:c.8035C>G | ENSP00000382432.2:p.Arg2679Gly | |
| ENST00000586751.5:c.2981C>G | ||
| ENST00000587184.5:c.3208C>G | ENSP00000466557.1:p.Arg1070Gly | |
| ENST00000588770.5:n.2781C>G | ||
| NM_000227.4:c.3376C>G | NP_000218.3:p.Arg1126Gly | |
| NM_001127717.2:c.8035C>G | NP_001121189.2:p.Arg2679Gly | |
| NM_001127718.2:c.3208C>G | NP_001121190.2:p.Arg1070Gly | |
| NM_198129.2:c.8203C>G | NP_937762.2:p.Arg2735Gly | |
| XM_011525978.1:c.8230C>G | XP_011524280.1:p.Arg2744Gly | |
| XM_011525979.1:c.8221C>G | XP_011524281.1:p.Arg2741Gly | |
| XM_011525980.1:c.8212C>G | XP_011524282.1:p.Arg2738Gly | |
| XM_011525981.1:c.8098C>G | XP_011524283.1:p.Arg2700Gly | |
| XM_011525982.1:c.7933C>G | XP_011524284.1:p.Arg2645Gly | |
| XM_011525978.2:c.8230C>G | XP_011524280.1:p.Arg2744Gly | |
| XM_011525979.2:c.8221C>G | XP_011524281.1:p.Arg2741Gly | |
| XM_011525980.2:c.8212C>G | XP_011524282.1:p.Arg2738Gly | |
| XM_011525981.2:c.8098C>G | XP_011524283.1:p.Arg2700Gly | |
| XM_011525982.2:c.7933C>G | XP_011524284.1:p.Arg2645Gly | |
| XM_017025743.1:c.6082C>G | XP_016881232.1:p.Arg2028Gly | |
| XM_017025744.1:c.3772C>G | XP_016881233.1:p.Arg1258Gly | |
| XR_001753199.1:n.8471C>G | ||
| NM_000227.5:c.3376C>G | NP_000218.3:p.Arg1126Gly | |
| NM_001127717.3:c.8035C>G | NP_001121189.2:p.Arg2679Gly | |
| NM_001127718.3:c.3208C>G | NP_001121190.2:p.Arg1070Gly | |
| NM_198129.3:c.8203C>G | NP_937762.2:p.Arg2735Gly | |
| NM_000227.6:c.3376C>G MANE Plus Clinical | NP_000218.3:p.Arg1126Gly | |
| NM_001127717.4:c.8035C>G | NP_001121189.2:p.Arg2679Gly | |
| NM_001127718.4:c.3208C>G | NP_001121190.2:p.Arg1070Gly | |
| NM_198129.4:c.8203C>G MANE Select | NP_937762.2:p.Arg2735Gly |