Revel Score:
ENST00000345662
0.873
ENST00000315285 (MANE Select)
0.873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32144990C>G , CM000664.2:g.32144990C>G | GRCh38 |
| NC_000002.11:g.32370059C>G , CM000664.1:g.32370059C>G | GRCh37 |
| NC_000002.10:g.32223563C>G | NCBI36 |
| NG_008730.1:g.86380C>G , LRG_714:g.86380C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1330C>G | ENSP00000515816.1:n.*1330C>G | |
| ENST00000315285.9:c.1670C>G MANE Select | ENSP00000320885.3:p.Ala557Gly | |
| ENST00000621856.2:c.1667C>G | ENSP00000482496.2:p.Ala556Gly | |
| ENST00000642281.1:c.1407C>G | ||
| ENST00000642455.1:c.1571C>G | ENSP00000493827.1:p.Ala524Gly | |
| ENST00000642751.1:c.1390+1575C>G | ||
| ENST00000642999.1:c.1412C>G | ENSP00000496589.1:p.Ala471Gly | |
| ENST00000643334.1:c.1250C>G | ||
| ENST00000644408.1:c.1546C>G | ||
| ENST00000644954.1:c.1316C>G | ENSP00000494312.1:p.Ala439Gly | |
| ENST00000645159.1:n.2407C>G | ||
| ENST00000645671.1:c.1066+1575C>G | ||
| ENST00000645730.1:c.849C>G | ||
| ENST00000646082.1:c.1316C>G | ||
| ENST00000646571.1:c.1574C>G | ENSP00000495015.1:p.Ala525Gly | |
| ENST00000647007.1:n.1362C>G | ||
| ENST00000647133.1:c.1170C>G | ||
| ENST00000315285.7:c.1670C>G | ENSP00000320885.3:p.Ala557Gly | |
| ENST00000345662.5:c.1574C>G | ENSP00000340817.1:p.Ala525Gly | |
| ENST00000615843.4:c.1670C>G | ENSP00000480893.1:p.Ala557Gly | |
| ENST00000621856.1:c.1412C>G | ENSP00000482496.1:p.Ala471Gly | |
| NM_014946.3:c.1670C>G , LRG_714t1:c.1670C>G | NP_055761.2:p.Ala557Gly | |
| NM_199436.1:c.1574C>G | NP_955468.1:p.Ala525Gly | |
| XM_005264516.3:c.1667C>G | XP_005264573.1:p.Ala556Gly | |
| XM_011533067.1:c.1616+1575C>G | XP_011531369.1:n.1616+1575C>G | |
| NM_001363823.1:c.1667C>G | NP_001350752.1:p.Ala556Gly | |
| NM_001363875.1:c.1571C>G | NP_001350804.1:p.Ala524Gly | |
| XM_005264516.5:c.1667C>G | XP_005264573.1:p.Ala556Gly | |
| XM_011533067.2:c.1616+1575C>G | XP_011531369.1:n.1616+1575C>G | |
| XM_017004778.2:c.1520+1575C>G | XP_016860267.1:n.1520+1575C>G | |
| NM_001363823.2:c.1667C>G | NP_001350752.1:p.Ala556Gly | |
| NM_001363875.2:c.1571C>G | NP_001350804.1:p.Ala524Gly | |
| NM_001377959.1:c.1520+1575C>G | NP_001364888.1:n.1520+1575C>G | |
| NM_014946.4:c.1670C>G MANE Select | NP_055761.2:p.Ala557Gly | |
| NM_199436.2:c.1574C>G | NP_955468.1:p.Ala525Gly |