Revel Score:
ENST00000445912
0.302
ENST00000252034 (MANE Select)
0.302
ENST00000358929
0.302
ENST00000320492
0.302
ENST00000414324
0.302
ENST00000380562
0.302
ENST00000380575
0.302
ENST00000380584
0.302
ENST00000458204
0.302
ENST00000357036
0.302
ENST00000429192
0.302
ENST00000442462
0.302
ENST00000380553
0.302
ENST00000380576
0.302
ENST00000320399
0.302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74068666G>T , CM000669.2:g.74068666G>T | GRCh38 |
| NC_000007.13:g.73482996G>T , CM000669.1:g.73482996G>T | GRCh37 |
| NC_000007.12:g.73120932G>T | NCBI36 |
| NG_009261.1:g.45570G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.2327G>T | ENSP00000510104.1:p.Cys776Phe | |
| ENST00000252034.12:c.2141G>T MANE Select | ENSP00000252034.7:p.Cys714Phe | |
| ENST00000252034.11:c.2141G>T | ENSP00000252034.7:p.Cys714Phe | |
| ENST00000320399.10:c.2240G>T | ENSP00000313565.6:p.Cys747Phe | |
| ENST00000320492.11:c.1898G>T | ENSP00000315607.7:p.Cys633Phe | |
| ENST00000357036.9:c.2102G>T | ENSP00000349540.5:p.Cys701Phe | |
| ENST00000358929.8:c.2327G>T | ENSP00000351807.5:p.Cys776Phe | |
| ENST00000380553.8:c.1679G>T | ENSP00000369926.4:p.Cys560Phe | |
| ENST00000380562.8:c.2159G>T | ENSP00000369936.4:p.Cys720Phe | |
| ENST00000380575.8:c.2000G>T | ENSP00000369949.4:p.Cys667Phe | |
| ENST00000380576.9:c.2084G>T | ENSP00000369950.5:p.Cys695Phe | |
| ENST00000380584.8:c.1943G>T | ENSP00000369958.4:p.Cys648Phe | |
| ENST00000414324.5:c.2069G>T | ENSP00000392575.1:p.Cys690Phe | |
| ENST00000429192.5:c.2045G>T | ENSP00000391129.1:p.Cys682Phe | |
| ENST00000445912.5:c.2087G>T | ENSP00000389857.1:p.Cys696Phe | |
| ENST00000458204.5:c.2111G>T | ENSP00000403162.1:p.Cys704Phe | |
| ENST00000621115.4:c.1820G>T | ENSP00000480955.1:p.Cys607Phe | |
| NM_000501.3:c.2141G>T | NP_000492.2:p.Cys714Phe | |
| NM_001081752.2:c.2000G>T | NP_001075221.1:p.Cys667Phe | |
| NM_001081753.2:c.2045G>T | NP_001075222.1:p.Cys682Phe | |
| NM_001081754.2:c.2102G>T | NP_001075223.1:p.Cys701Phe | |
| NM_001081755.2:c.2084G>T | NP_001075224.1:p.Cys695Phe | |
| NM_001278912.1:c.2087G>T | NP_001265841.1:p.Cys696Phe | |
| NM_001278913.1:c.1898G>T | NP_001265842.1:p.Cys633Phe | |
| NM_001278914.1:c.2069G>T | NP_001265843.1:p.Cys690Phe | |
| NM_001278915.1:c.2159G>T | NP_001265844.1:p.Cys720Phe | |
| NM_001278916.1:c.1943G>T | NP_001265845.1:p.Cys648Phe | |
| NM_001278917.1:c.2111G>T | NP_001265846.1:p.Cys704Phe | |
| NM_001278918.1:c.1820G>T | NP_001265847.1:p.Cys607Phe | |
| NM_001278939.1:c.2327G>T | NP_001265868.1:p.Cys776Phe | |
| XM_005250187.1:c.2105G>T | XP_005250244.1:p.Cys702Phe | |
| XM_005250188.1:c.2099G>T | XP_005250245.1:p.Cys700Phe | |
| XM_011515868.1:c.2156G>T | XP_011514170.1:p.Cys719Phe | |
| XM_011515869.1:c.2126G>T | XP_011514171.1:p.Cys709Phe | |
| XM_011515870.1:c.2120G>T | XP_011514172.1:p.Cys707Phe | |
| XM_011515871.1:c.2114G>T | XP_011514173.1:p.Cys705Phe | |
| XM_011515872.1:c.2102G>T | XP_011514174.1:p.Cys701Phe | |
| XM_011515873.1:c.2099G>T | XP_011514175.1:p.Cys700Phe | |
| XM_011515874.1:c.2090G>T | XP_011514176.1:p.Cys697Phe | |
| XM_011515875.1:c.2075G>T | XP_011514177.1:p.Cys692Phe | |
| XM_011515876.1:c.2057G>T | XP_011514178.1:p.Cys686Phe | |
| XM_011515877.1:c.2045G>T | XP_011514179.1:p.Cys682Phe | |
| XM_005250187.2:c.2105G>T | XP_005250244.1:p.Cys702Phe | |
| XM_005250188.2:c.2099G>T | XP_005250245.1:p.Cys700Phe | |
| XM_011515868.2:c.2156G>T | XP_011514170.1:p.Cys719Phe | |
| XM_011515871.2:c.2114G>T | XP_011514173.1:p.Cys705Phe | |
| XM_011515872.2:c.2102G>T | XP_011514174.1:p.Cys701Phe | |
| XM_011515873.2:c.2099G>T | XP_011514175.1:p.Cys700Phe | |
| XM_011515875.2:c.2075G>T | XP_011514177.1:p.Cys692Phe | |
| XM_011515876.2:c.2057G>T | XP_011514178.1:p.Cys686Phe | |
| XM_011515877.2:c.2045G>T | XP_011514179.1:p.Cys682Phe | |
| XM_017011813.1:c.2069G>T | XP_016867302.1:p.Cys690Phe | |
| XM_017011814.2:c.2057G>T | XP_016867303.1:p.Cys686Phe | |
| NM_000501.4:c.2141G>T MANE Select | NP_000492.2:p.Cys714Phe | |
| NM_001081752.3:c.2000G>T | NP_001075221.1:p.Cys667Phe | |
| NM_001081753.3:c.2045G>T | NP_001075222.1:p.Cys682Phe | |
| NM_001081754.3:c.2102G>T | NP_001075223.1:p.Cys701Phe | |
| NM_001081755.3:c.2084G>T | NP_001075224.1:p.Cys695Phe | |
| NM_001278912.2:c.2087G>T | NP_001265841.1:p.Cys696Phe | |
| NM_001278913.2:c.1898G>T | NP_001265842.1:p.Cys633Phe | |
| NM_001278914.2:c.2069G>T | NP_001265843.1:p.Cys690Phe | |
| NM_001278915.2:c.2159G>T | NP_001265844.1:p.Cys720Phe | |
| NM_001278916.2:c.1943G>T | NP_001265845.1:p.Cys648Phe | |
| NM_001278917.2:c.2111G>T | NP_001265846.1:p.Cys704Phe | |
| NM_001278918.2:c.1820G>T | NP_001265847.1:p.Cys607Phe | |
| NM_001278939.2:c.2327G>T | NP_001265868.1:p.Cys776Phe |