Revel Score:
ENST00000376917 (MANE Select)
0.193
ENST00000376902
0.193
ENST00000533330
0.193
ENST00000376894
0.193
ENST00000416766
0.193
ENST00000376891
0.193
ENST00000376898
0.193
ENST00000431798
0.193
ENST00000396701
0.193
ENST00000494692
0.193
ENST00000396704
0.193
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00761717 (SAS)
Genomes Max Group AF
0.01065677 (SAS)
Exomes Max Group AF
0.00732522 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29659445C>T , CM000668.2:g.29659445C>T | GRCh38 |
| NC_000006.11:g.29627222C>T , CM000668.1:g.29627222C>T | GRCh37 |
| NC_000006.10:g.29735201C>T | NCBI36 |
| NG_031873.1:g.7465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376917.8:c.215C>T MANE Select | ENSP00000366115.3:p.Pro72Leu | |
| ENST00000376888.6:c.88+2148C>T | ENSP00000366085.2:n.88+2148C>T | |
| ENST00000376889.3:c.127C>T | ||
| ENST00000376891.8:c.215C>T | ENSP00000366088.4:p.Pro72Leu | |
| ENST00000376894.8:c.215C>T | ENSP00000366091.4:p.Pro72Leu | |
| ENST00000376898.7:c.215C>T | ENSP00000366095.3:p.Pro72Leu | |
| ENST00000376903.4:c.*72C>T | ENSP00000366101.4:n.*72C>T | |
| ENST00000376917.7:c.215C>T | ENSP00000366115.3:p.Pro72Leu | |
| ENST00000396701.6:c.215C>T | ENSP00000379929.2:p.Pro72Leu | |
| ENST00000396704.7:c.215C>T | ENSP00000379932.3:p.Pro72Leu | |
| ENST00000416766.6:c.215C>T | ENSP00000409394.2:p.Pro72Leu | |
| ENST00000431798.6:c.215C>T | ENSP00000410866.2:p.Pro72Leu | |
| ENST00000469353.1:n.295C>T | ||
| ENST00000469603.1:n.209C>T | ||
| ENST00000476244.5:n.209C>T | ||
| ENST00000483013.5:c.88+2148C>T | ENSP00000418090.1:n.88+2148C>T | |
| ENST00000485211.5:c.127C>T | ||
| ENST00000490427.5:c.88+2148C>T | ENSP00000420350.1:n.88+2148C>T | |
| ENST00000494692.5:c.215C>T | ENSP00000417405.1:p.Pro72Leu | |
| NM_001008228.2:c.215C>T | NP_001008229.1:p.Pro72Leu | |
| NM_001008229.2:c.215C>T | NP_001008230.1:p.Pro72Leu | |
| NM_001170418.1:c.88+2148C>T | NP_001163889.1:n.88+2148C>T | |
| NM_002433.4:c.215C>T | NP_002424.3:p.Pro72Leu | |
| NM_206809.3:c.215C>T | NP_996532.2:p.Pro72Leu | |
| NM_206810.3:c.215C>T | NP_996533.2:p.Pro72Leu | |
| NM_206811.3:c.215C>T | NP_996534.2:p.Pro72Leu | |
| NM_206812.3:c.215C>T | NP_996535.2:p.Pro72Leu | |
| NM_206814.5:c.88+2148C>T | NP_996537.3:n.88+2148C>T | |
| XM_005249131.2:c.215C>T | XP_005249188.1:p.Pro72Leu | |
| XM_005249139.2:c.215C>T | XP_005249196.1:p.Pro72Leu | |
| NM_001363610.1:c.215C>T | NP_001350539.1:p.Pro72Leu | |
| NM_206809.4:c.215C>T MANE Select | NP_996532.2:p.Pro72Leu | |
| NM_001008228.3:c.215C>T | NP_001008229.1:p.Pro72Leu | |
| NM_001008229.3:c.215C>T | NP_001008230.1:p.Pro72Leu | |
| NM_001170418.2:c.88+2148C>T | NP_001163889.1:n.88+2148C>T | |
| NM_001363610.2:c.215C>T | NP_001350539.1:p.Pro72Leu | |
| NM_002433.5:c.215C>T | NP_002424.3:p.Pro72Leu | |
| NM_206810.4:c.215C>T | NP_996533.2:p.Pro72Leu | |
| NM_206811.4:c.215C>T | NP_996534.2:p.Pro72Leu | |
| NM_206812.4:c.215C>T | NP_996535.2:p.Pro72Leu | |
| NM_206814.6:c.88+2148C>T | NP_996537.3:n.88+2148C>T |