Revel Score:
ENST00000356592
0.981
ENST00000414552
0.981
ENST00000361925
0.981
ENST00000393933
0.981
ENST00000522053
0.981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162142238C>T , CM000667.2:g.162142238C>T | GRCh38 |
| NC_000005.9:g.161569244C>T , CM000667.1:g.161569244C>T | GRCh37 |
| NC_000005.8:g.161501822C>T | NCBI36 |
| NG_009290.1:g.79597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.845C>T | ||
| ENST00000361925.9:c.964C>T | ENSP00000354651.5:p.Pro322Ser | |
| ENST00000522053.2:n.735C>T | ||
| ENST00000523372.2:c.927C>T | ||
| ENST00000638253.1:n.98C>T | ||
| ENST00000638552.1:c.559C>T | ENSP00000491763.1:p.Pro187Ser | |
| ENST00000638660.1:c.559C>T | ENSP00000492869.1:p.Pro187Ser | |
| ENST00000638772.1:c.844C>T | ENSP00000491557.1:p.Pro282Ser | |
| ENST00000638782.1:n.906C>T | ||
| ENST00000638877.1:c.721C>T | ||
| ENST00000639046.1:c.235C>T | ENSP00000492659.1:p.Pro79Ser | |
| ENST00000639111.2:c.844C>T | ENSP00000492125.2:p.Pro282Ser | |
| ENST00000639213.2:c.844C>T MANE Select | ENSP00000491909.2:p.Pro282Ser | |
| ENST00000639278.1:c.772C>T | ENSP00000491958.1:p.Pro258Ser | |
| ENST00000639384.1:c.844C>T | ENSP00000491240.1:p.Pro282Ser | |
| ENST00000639424.1:c.*44C>T | ENSP00000491245.1:n.*44C>T | |
| ENST00000639683.1:c.778C>T | ENSP00000492581.1:p.Pro260Ser | |
| ENST00000639975.1:c.778C>T | ENSP00000492096.1:p.Pro260Ser | |
| ENST00000640500.1:n.142C>T | ||
| ENST00000640574.1:c.559C>T | ENSP00000491582.1:p.Pro187Ser | |
| ENST00000640739.1:n.3375C>T | ||
| ENST00000640910.1:c.282C>T | ||
| ENST00000640985.1:c.757C>T | ENSP00000492293.1:p.Pro253Ser | |
| ENST00000641017.1:c.844C>T | ENSP00000493461.1:p.Pro282Ser | |
| ENST00000356592.7:c.844C>T | ENSP00000349000.3:p.Pro282Ser | |
| ENST00000361925.8:c.844C>T | ENSP00000354651.4:p.Pro282Ser | |
| ENST00000414552.6:c.964C>T | ENSP00000410732.2:p.Pro322Ser | |
| ENST00000522053.1:c.559C>T | ENSP00000430182.1:p.Pro187Ser | |
| ENST00000522990.5:c.*446C>T | ENSP00000430732.1:n.*446C>T | |
| ENST00000523372.1:c.965C>T | ENSP00000430124.1:n.965C>T | |
| NM_000816.3:c.844C>T | NP_000807.2:p.Pro282Ser | |
| NM_198903.2:c.964C>T | NP_944493.2:p.Pro322Ser | |
| NM_198904.2:c.844C>T | NP_944494.1:p.Pro282Ser | |
| NM_001375339.1:c.835C>T | NP_001362268.1:p.Pro279Ser | |
| NM_001375340.1:c.844C>T | NP_001362269.1:p.Pro282Ser | |
| NM_001375341.1:c.841C>T | NP_001362270.1:p.Pro281Ser | |
| NM_001375342.1:c.841C>T | NP_001362271.1:p.Pro281Ser | |
| NM_001375343.1:c.964C>T | NP_001362272.1:p.Pro322Ser | |
| NM_001375344.1:c.883C>T | NP_001362273.1:p.Pro295Ser | |
| NM_001375345.1:c.778C>T | NP_001362274.1:p.Pro260Ser | |
| NM_001375346.1:c.778C>T | NP_001362275.1:p.Pro260Ser | |
| NM_001375347.1:c.757C>T | NP_001362276.1:p.Pro253Ser | |
| NM_001375348.1:c.424C>T | NP_001362277.1:p.Pro142Ser | |
| NM_001375349.1:c.559C>T | NP_001362278.1:p.Pro187Ser | |
| NM_001375350.1:c.424C>T | NP_001362279.1:p.Pro142Ser | |
| NM_198904.3:c.844C>T | NP_944494.1:p.Pro282Ser | |
| NM_198904.4:c.844C>T MANE Select | NP_944494.1:p.Pro282Ser |