Revel Score:
ENST00000370841 (MANE Select)
0.930
ENST00000370834
0.930
ENST00000541113
0.930
ENST00000543667
0.930
ENST00000420607
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761300T>C , CM000663.2:g.75761300T>C | GRCh38 |
| NC_000001.10:g.76226985T>C , CM000663.1:g.76226985T>C | GRCh37 |
| NC_000001.9:g.75999573T>C | NCBI36 |
| NG_007045.2:g.41943T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1124T>C MANE Select | ENSP00000359878.5:p.Ile375Thr | |
| ENST00000473018.3:n.3248T>C | ||
| ENST00000532207.6:n.2135T>C | ||
| ENST00000541113.6:c.1028T>C | ENSP00000442324.2:p.Ile343Thr | |
| ENST00000679509.1:n.2086T>C | ||
| ENST00000679530.1:c.*892T>C | ENSP00000506454.1:n.*892T>C | |
| ENST00000679615.1:n.3139T>C | ||
| ENST00000679687.1:c.686T>C | ENSP00000506598.1:p.Ile229Thr | |
| ENST00000679704.1:c.*890T>C | ENSP00000505117.1:n.*890T>C | |
| ENST00000679709.1:c.*1087T>C | ENSP00000506623.1:n.*1087T>C | |
| ENST00000679976.1:c.*708T>C | ENSP00000505565.1:n.*708T>C | |
| ENST00000680166.1:n.4413T>C | ||
| ENST00000680315.1:n.1007T>C | ||
| ENST00000680517.1:c.*512T>C | ENSP00000505803.1:n.*512T>C | |
| ENST00000680582.1:n.2086T>C | ||
| ENST00000680613.1:c.*617T>C | ENSP00000506114.1:n.*617T>C | |
| ENST00000680662.1:c.*1038T>C | ENSP00000505080.1:n.*1038T>C | |
| ENST00000680691.1:c.*787T>C | ENSP00000506487.1:n.*787T>C | |
| ENST00000680694.1:c.*712T>C | ENSP00000505658.1:n.*712T>C | |
| ENST00000680743.1:c.*913T>C | ENSP00000505073.1:n.*913T>C | |
| ENST00000680749.1:c.*409T>C | ENSP00000505122.1:n.*409T>C | |
| ENST00000680798.1:c.*599T>C | ENSP00000505670.1:n.*599T>C | |
| ENST00000680805.1:c.983T>C | ENSP00000505447.1:p.Ile328Thr | |
| ENST00000680844.1:c.*908T>C | ENSP00000506541.1:n.*908T>C | |
| ENST00000680948.1:c.*991T>C | ENSP00000505441.1:n.*991T>C | |
| ENST00000680964.1:c.*217T>C | ENSP00000505961.1:n.*217T>C | |
| ENST00000681037.1:c.*2608T>C | ENSP00000506025.1:n.*2608T>C | |
| ENST00000681063.1:c.*393T>C | ENSP00000506616.1:n.*393T>C | |
| ENST00000681209.1:c.*779T>C | ENSP00000505877.1:n.*779T>C | |
| ENST00000681278.1:n.1826T>C | ||
| ENST00000681289.1:n.5119T>C | ||
| ENST00000681361.1:c.*791T>C | ENSP00000506679.1:n.*791T>C | |
| ENST00000681430.1:c.*217T>C | ENSP00000506301.1:n.*217T>C | |
| ENST00000681446.1:c.*828T>C | ENSP00000506244.1:n.*828T>C | |
| ENST00000681450.1:c.*795T>C | ENSP00000505660.1:n.*795T>C | |
| ENST00000681548.1:c.*710T>C | ENSP00000505275.1:n.*710T>C | |
| ENST00000681616.1:c.*783T>C | ENSP00000505111.1:n.*783T>C | |
| ENST00000681621.1:c.*708T>C | ENSP00000505770.1:n.*708T>C | |
| ENST00000681680.1:n.3219T>C | ||
| ENST00000681720.1:c.*579T>C | ENSP00000505438.1:n.*579T>C | |
| ENST00000681730.1:n.1346T>C | ||
| ENST00000681790.1:c.866T>C | ENSP00000505130.1:p.Ile289Thr | |
| ENST00000681837.1:n.1740T>C | ||
| ENST00000681913.1:n.3370T>C | ||
| ENST00000681916.1:c.*892T>C | ENSP00000506477.1:n.*892T>C | |
| ENST00000681930.1:n.3248T>C | ||
| ENST00000370834.9:c.1223T>C | ENSP00000359871.5:p.Ile408Thr | |
| ENST00000370841.8:c.1124T>C | ENSP00000359878.4:p.Ile375Thr | |
| ENST00000420607.6:c.1136T>C | ENSP00000409612.2:p.Ile379Thr | |
| ENST00000481374.1:n.397T>C | ||
| ENST00000525808.5:c.*710T>C | ENSP00000434823.1:n.*710T>C | |
| ENST00000526129.5:c.*908T>C | ENSP00000434092.1:n.*908T>C | |
| ENST00000526196.5:c.*892T>C | ENSP00000431953.1:n.*892T>C | |
| ENST00000528016.1:c.160-7877T>C | ENSP00000434284.1:n.160-7877T>C | |
| ENST00000529059.5:n.1033T>C | ||
| ENST00000541113.5:c.1016T>C | ENSP00000442324.1:p.Ile339Thr | |
| NM_000016.5:c.1124T>C | NP_000007.1:p.Ile375Thr | |
| NM_001127328.2:c.1136T>C | NP_001120800.1:p.Ile379Thr | |
| NM_001286042.1:c.1016T>C | NP_001272971.1:p.Ile339Thr | |
| NM_001286043.1:c.1223T>C | NP_001272972.1:p.Ile408Thr | |
| NM_001286044.1:c.557T>C | NP_001272973.1:p.Ile186Thr | |
| NM_000016.6:c.1124T>C MANE Select | NP_000007.1:p.Ile375Thr | |
| NM_001127328.3:c.1136T>C | NP_001120800.1:p.Ile379Thr | |
| NM_001286042.2:c.1016T>C | NP_001272971.1:p.Ile339Thr | |
| NM_001286043.2:c.1223T>C | NP_001272972.1:p.Ile408Thr | |
| NM_001286044.2:c.557T>C | NP_001272973.1:p.Ile186Thr |