Revel Score:
ENST00000431387
0.786
ENST00000358273 (MANE Select)
0.786
ENST00000356175
0.786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31181724G>C , CM000679.2:g.31181724G>C | GRCh38 |
| NC_000017.10:g.29508742G>C , CM000679.1:g.29508742G>C | GRCh37 |
| NC_000017.9:g.26532868G>C | NCBI36 |
| NG_009018.1:g.91748G>C , LRG_214:g.91748G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.669G>C | ENSP00000512431.1:p.Trp223Cys | |
| ENST00000686189.1:c.84G>C | ENSP00000509682.1:p.Trp28Cys | |
| ENST00000691014.1:c.669G>C | ENSP00000510595.1:p.Trp223Cys | |
| ENST00000358273.9:c.669G>C MANE Select | ENSP00000351015.4:p.Trp223Cys | |
| ENST00000490416.2:c.249G>C | ENSP00000491431.1:p.Trp83Cys | |
| ENST00000356175.7:c.669G>C | ENSP00000348498.3:p.Trp223Cys | |
| ENST00000358273.8:c.669G>C | ENSP00000351015.4:p.Trp223Cys | |
| ENST00000431387.8:c.669G>C | ENSP00000412921.4:p.Trp223Cys | |
| ENST00000487476.5:n.1052G>C | ||
| ENST00000490416.1:n.303G>C | ||
| ENST00000495910.6:c.444G>C | ||
| ENST00000579081.5:c.771G>C | ENSP00000462408.1:p.Trp257Cys | |
| NM_000267.3:c.669G>C , LRG_214t1:c.669G>C | NP_000258.1:p.Trp223Cys | |
| NM_001042492.2:c.669G>C , LRG_214t2:c.669G>C | NP_001035957.1:p.Trp223Cys | |
| NM_001128147.2:c.669G>C | NP_001121619.1:p.Trp223Cys | |
| XM_005257983.1:c.669G>C | XP_005258040.1:p.Trp223Cys | |
| XM_005257984.1:c.669G>C | XP_005258041.1:p.Trp223Cys | |
| XM_006721922.1:c.669G>C | XP_006721985.1:p.Trp223Cys | |
| XM_006721923.2:c.630G>C | XP_006721986.1:p.Trp210Cys | |
| XM_006721924.1:c.669G>C | XP_006721987.1:p.Trp223Cys | |
| XM_006721925.1:c.669G>C | XP_006721988.1:p.Trp223Cys | |
| XM_006721926.2:c.669G>C | XP_006721989.1:p.Trp223Cys | |
| XM_006721927.1:c.669G>C | XP_006721990.1:p.Trp223Cys | |
| XM_006721928.2:c.669G>C | XP_006721991.1:p.Trp223Cys | |
| XM_011524852.1:c.669G>C | XP_011523154.1:p.Trp223Cys | |
| XM_011524853.1:c.630G>C | XP_011523155.1:p.Trp210Cys | |
| XM_011524854.1:c.630G>C | XP_011523156.1:p.Trp210Cys | |
| XM_011524855.1:c.630G>C | XP_011523157.1:p.Trp210Cys | |
| XM_011524856.1:c.630G>C | XP_011523158.1:p.Trp210Cys | |
| XM_011524857.1:c.669G>C | XP_011523159.1:p.Trp223Cys | |
| NM_001042492.3:c.669G>C MANE Select | NP_001035957.1:p.Trp223Cys | |
| NM_001128147.3:c.669G>C | NP_001121619.1:p.Trp223Cys |