Revel Score:
ENST00000372629
0.187
ENST00000468024
0.187
ENST00000472484 (MANE Select)
0.187
ENST00000415568
0.187
ENST00000414064
0.187
ENST00000490644
0.187
ENST00000459722
0.187
ENST00000472745
0.187
ENST00000494801
0.187
ENST00000434216
0.187
ENST00000425011
0.187
ENST00000469586
0.187
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103586764C>T , CM000685.2:g.103586764C>T | GRCh38 |
| NC_000023.10:g.102841692C>T , CM000685.1:g.102841692C>T | GRCh37 |
| NC_000023.9:g.102728348C>T | NCBI36 |
| NG_016315.2:g.15534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472484.6:c.89C>T MANE Select | ENSP00000421156.1:p.Pro30Leu | |
| ENST00000372629.4:c.518C>T | ENSP00000361712.4:p.Pro173Leu | |
| ENST00000415568.2:c.89C>T | ENSP00000415564.2:p.Pro30Leu | |
| ENST00000425011.1:c.89C>T | ENSP00000394029.1:p.Pro30Leu | |
| ENST00000434216.2:c.89C>T | ENSP00000411320.2:p.Pro30Leu | |
| ENST00000459722.1:c.89C>T | ENSP00000423723.1:p.Pro30Leu | |
| ENST00000468024.5:c.89C>T | ENSP00000421857.1:p.Pro30Leu | |
| ENST00000469586.1:c.89C>T | ENSP00000427053.1:p.Pro30Leu | |
| ENST00000472484.5:c.89C>T | ENSP00000421156.1:p.Pro30Leu | |
| ENST00000472745.1:c.89C>T | ENSP00000424314.1:p.Pro30Leu | |
| ENST00000490644.5:c.89C>T | ENSP00000425883.1:p.Pro30Leu | |
| ENST00000494801.5:c.89C>T | ENSP00000427494.1:p.Pro30Leu | |
| ENST00000613326.4:c.89C>T | ENSP00000480202.1:p.Pro30Leu | |
| NM_001006935.1:c.89C>T | NP_001006936.1:p.Pro30Leu | |
| NM_001006935.2:c.89C>T | NP_001006936.1:p.Pro30Leu | |
| NM_001006937.1:c.89C>T | NP_001006938.1:p.Pro30Leu | |
| NM_001006937.2:c.89C>T | NP_001006938.1:p.Pro30Leu | |
| NM_001300901.1:c.518C>T | NP_001287830.1:p.Pro173Leu | |
| NM_001305840.1:c.89C>T | NP_001292769.1:p.Pro30Leu | |
| NM_001305841.1:c.89C>T | NP_001292770.1:p.Pro30Leu | |
| NM_001305842.1:c.89C>T | NP_001292771.1:p.Pro30Leu | |
| NM_024863.4:c.89C>T | NP_079139.4:p.Pro30Leu | |
| NM_024863.5:c.89C>T | NP_079139.4:p.Pro30Leu | |
| XM_017029856.1:c.275C>T | XP_016885345.1:p.Pro92Leu | |
| XM_017029857.1:c.89C>T | XP_016885346.1:p.Pro30Leu | |
| XM_024452450.1:c.89C>T | XP_024308218.1:p.Pro30Leu | |
| NM_001006935.3:c.89C>T MANE Select | NP_001006936.1:p.Pro30Leu | |
| NM_001006937.3:c.89C>T | NP_001006938.1:p.Pro30Leu | |
| NM_001300901.2:c.518C>T | NP_001287830.1:p.Pro173Leu | |
| NM_001305840.2:c.89C>T | NP_001292769.1:p.Pro30Leu | |
| NM_001305841.2:c.89C>T | NP_001292770.1:p.Pro30Leu | |
| NM_001305842.2:c.89C>T | NP_001292771.1:p.Pro30Leu | |
| NM_024863.6:c.89C>T | NP_079139.4:p.Pro30Leu |