Revel Score:
ENST00000348261 (MANE Select)
0.204
ENST00000358590
0.204
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1220830A>G , CM000678.2:g.1220830A>G | GRCh38 |
| NC_000016.9:g.1270830A>G , CM000678.1:g.1270830A>G | GRCh37 |
| NC_000016.8:g.1210831A>G | NCBI36 |
| NG_012647.1:g.72590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562079.6:c.6847A>G | ENSP00000454581.2:p.Ile2283Val | |
| ENST00000564231.6:c.6865A>G | ENSP00000457555.2:p.Ile2289Val | |
| ENST00000565831.7:c.6880A>G | ENSP00000455840.1:p.Ile2294Val | |
| ENST00000569107.6:c.6913A>G | ENSP00000454990.2:p.Ile2305Val | |
| ENST00000621827.2:c.6121+777A>G | ENSP00000518766.1:n.6121+777A>G | |
| ENST00000637236.3:c.*2817A>G | ENSP00000492650.2:n.*2817A>G | |
| ENST00000711438.1:c.6841A>G | ENSP00000518754.1:p.Ile2281Val | |
| ENST00000711442.1:c.*6342A>G | ENSP00000518758.1:n.*6342A>G | |
| ENST00000711447.1:c.6100A>G | ENSP00000518759.1:p.Ile2034Val | |
| ENST00000711448.1:c.*1839A>G | ENSP00000518760.1:n.*1839A>G | |
| ENST00000711449.1:c.*1757A>G | ENSP00000518761.1:n.*1757A>G | |
| ENST00000711450.1:c.6880A>G | ENSP00000518762.1:p.Ile2294Val | |
| ENST00000711451.1:c.*2477A>G | ENSP00000518763.1:n.*2477A>G | |
| ENST00000711452.1:c.*1565A>G | ENSP00000518764.1:n.*1565A>G | |
| ENST00000711453.1:c.*1532A>G | ENSP00000518765.1:n.*1532A>G | |
| ENST00000711455.1:c.*377A>G | ENSP00000518768.1:n.*377A>G | |
| ENST00000711456.1:c.*812A>G | ENSP00000518769.1:n.*812A>G | |
| ENST00000711482.1:c.*377A>G | ENSP00000518771.1:n.*377A>G | |
| ENST00000711483.1:c.*812A>G | ENSP00000518772.1:n.*812A>G | |
| ENST00000711484.1:c.*812A>G | ENSP00000518773.1:n.*812A>G | |
| ENST00000711485.1:c.*377A>G | ENSP00000518774.1:n.*377A>G | |
| ENST00000711486.1:c.6898A>G | ENSP00000518775.1:p.Ile2300Val | |
| ENST00000711487.1:c.6865A>G | ENSP00000518776.1:p.Ile2289Val | |
| ENST00000711488.1:c.*2014A>G | ENSP00000518777.1:n.*2014A>G | |
| ENST00000711489.1:n.2511A>G | ||
| ENST00000711490.1:n.2535A>G | ||
| ENST00000711493.1:c.6883A>G | ENSP00000518778.1:p.Ile2295Val | |
| ENST00000348261.11:c.6898A>G MANE Select | ENSP00000334198.7:p.Ile2300Val | |
| ENST00000565831.6:c.6880A>G | ENSP00000455840.1:p.Ile2294Val | |
| ENST00000638323.1:c.6859A>G | ENSP00000492267.1:p.Ile2287Val | |
| ENST00000639478.1:c.*1946A>G | ENSP00000491945.1:n.*1946A>G | |
| ENST00000640028.1:c.*4716A>G | ENSP00000491488.1:n.*4716A>G | |
| ENST00000348261.9:c.6898A>G | ENSP00000334198.7:p.Ile2300Val | |
| ENST00000358590.8:c.6880A>G | ENSP00000351401.4:p.Ile2294Val | |
| ENST00000562079.5:c.3071A>G | ||
| ENST00000564231.5:c.3089A>G | ||
| ENST00000564927.1:c.2529A>G | ||
| ENST00000565831.5:c.6880A>G | ENSP00000455840.1:p.Ile2294Val | |
| ENST00000569107.5:c.3137A>G | ||
| NM_001005407.1:c.6880A>G | NP_001005407.1:p.Ile2294Val | |
| NM_021098.2:c.6898A>G | NP_066921.2:p.Ile2300Val | |
| XM_005255652.3:c.6880A>G | XP_005255709.1:p.Ile2294Val | |
| XM_006720963.2:c.6913A>G | XP_006721026.1:p.Ile2305Val | |
| XM_006720964.2:c.6865A>G | XP_006721027.1:p.Ile2289Val | |
| XM_006720965.2:c.6847A>G | XP_006721028.1:p.Ile2283Val | |
| XM_011522724.1:c.6367A>G | XP_011521026.1:p.Ile2123Val | |
| XM_011522725.1:c.3964A>G | XP_011521027.1:p.Ile1322Val | |
| XM_005255652.4:c.6880A>G | XP_005255709.1:p.Ile2294Val | |
| XM_006720963.3:c.6913A>G | XP_006721026.1:p.Ile2305Val | |
| XM_006720964.3:c.6865A>G | XP_006721027.1:p.Ile2289Val | |
| XM_006720965.3:c.6847A>G | XP_006721028.1:p.Ile2283Val | |
| XM_011522724.2:c.6367A>G | XP_011521026.1:p.Ile2123Val | |
| XM_017023819.1:c.6874A>G | XP_016879308.1:p.Ile2292Val | |
| NM_021098.3:c.6898A>G MANE Select | NP_066921.2:p.Ile2300Val | |
| NM_001005407.2:c.6880A>G | NP_001005407.1:p.Ile2294Val |