Revel Score:
ENST00000445912
0.155
ENST00000252034 (MANE Select)
0.155
ENST00000358929
0.155
ENST00000320492
0.155
ENST00000414324
0.155
ENST00000380562
0.155
ENST00000380575
0.155
ENST00000380584
0.155
ENST00000458204
0.155
ENST00000357036
0.155
ENST00000429192
0.155
ENST00000442462
0.155
ENST00000380553
0.155
ENST00000380576
0.155
ENST00000320399
0.155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74063224G>C , CM000669.2:g.74063224G>C | GRCh38 |
| NC_000007.13:g.73477554G>C , CM000669.1:g.73477554G>C | GRCh37 |
| NC_000007.12:g.73115490G>C | NCBI36 |
| NG_009261.1:g.40128G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.2044G>C | ENSP00000510104.1:p.Gly682Arg | |
| ENST00000252034.12:c.1858G>C MANE Select | ENSP00000252034.7:p.Gly620Arg | |
| ENST00000252034.11:c.1858G>C | ENSP00000252034.7:p.Gly620Arg | |
| ENST00000320399.10:c.1957G>C | ENSP00000313565.6:p.Gly653Arg | |
| ENST00000320492.11:c.1615G>C | ENSP00000315607.7:p.Gly539Arg | |
| ENST00000357036.9:c.1873G>C | ENSP00000349540.5:p.Gly625Arg | |
| ENST00000358929.8:c.2044G>C | ENSP00000351807.5:p.Gly682Arg | |
| ENST00000380553.8:c.1450G>C | ENSP00000369926.4:p.Gly484Arg | |
| ENST00000380562.8:c.1876G>C | ENSP00000369936.4:p.Gly626Arg | |
| ENST00000380575.8:c.1771G>C | ENSP00000369949.4:p.Gly591Arg | |
| ENST00000380576.9:c.1801G>C | ENSP00000369950.5:p.Gly601Arg | |
| ENST00000380584.8:c.1714G>C | ENSP00000369958.4:p.Gly572Arg | |
| ENST00000414324.5:c.1786G>C | ENSP00000392575.1:p.Gly596Arg | |
| ENST00000429192.5:c.1816G>C | ENSP00000391129.1:p.Gly606Arg | |
| ENST00000445912.5:c.1858G>C | ENSP00000389857.1:p.Gly620Arg | |
| ENST00000458204.5:c.1828G>C | ENSP00000403162.1:p.Gly610Arg | |
| ENST00000621115.4:c.1591G>C | ENSP00000480955.1:p.Gly531Arg | |
| NM_000501.3:c.1858G>C | NP_000492.2:p.Gly620Arg | |
| NM_001081752.2:c.1771G>C | NP_001075221.1:p.Gly591Arg | |
| NM_001081753.2:c.1816G>C | NP_001075222.1:p.Gly606Arg | |
| NM_001081754.2:c.1873G>C | NP_001075223.1:p.Gly625Arg | |
| NM_001081755.2:c.1801G>C | NP_001075224.1:p.Gly601Arg | |
| NM_001278912.1:c.1858G>C | NP_001265841.1:p.Gly620Arg | |
| NM_001278913.1:c.1615G>C | NP_001265842.1:p.Gly539Arg | |
| NM_001278914.1:c.1786G>C | NP_001265843.1:p.Gly596Arg | |
| NM_001278915.1:c.1876G>C | NP_001265844.1:p.Gly626Arg | |
| NM_001278916.1:c.1714G>C | NP_001265845.1:p.Gly572Arg | |
| NM_001278917.1:c.1828G>C | NP_001265846.1:p.Gly610Arg | |
| NM_001278918.1:c.1591G>C | NP_001265847.1:p.Gly531Arg | |
| NM_001278939.1:c.2044G>C | NP_001265868.1:p.Gly682Arg | |
| XM_005250187.1:c.1822G>C | XP_005250244.1:p.Gly608Arg | |
| XM_005250188.1:c.1816G>C | XP_005250245.1:p.Gly606Arg | |
| XM_011515868.1:c.1873G>C | XP_011514170.1:p.Gly625Arg | |
| XM_011515869.1:c.1843G>C | XP_011514171.1:p.Gly615Arg | |
| XM_011515870.1:c.1837G>C | XP_011514172.1:p.Gly613Arg | |
| XM_011515871.1:c.1831G>C | XP_011514173.1:p.Gly611Arg | |
| XM_011515872.1:c.1819G>C | XP_011514174.1:p.Gly607Arg | |
| XM_011515873.1:c.1816G>C | XP_011514175.1:p.Gly606Arg | |
| XM_011515874.1:c.1807G>C | XP_011514176.1:p.Gly603Arg | |
| XM_011515875.1:c.1792G>C | XP_011514177.1:p.Gly598Arg | |
| XM_011515876.1:c.1873G>C | XP_011514178.1:p.Gly625Arg | |
| XM_011515877.1:c.1762G>C | XP_011514179.1:p.Gly588Arg | |
| XM_005250187.2:c.1822G>C | XP_005250244.1:p.Gly608Arg | |
| XM_005250188.2:c.1816G>C | XP_005250245.1:p.Gly606Arg | |
| XM_011515868.2:c.1873G>C | XP_011514170.1:p.Gly625Arg | |
| XM_011515871.2:c.1831G>C | XP_011514173.1:p.Gly611Arg | |
| XM_011515872.2:c.1819G>C | XP_011514174.1:p.Gly607Arg | |
| XM_011515873.2:c.1816G>C | XP_011514175.1:p.Gly606Arg | |
| XM_011515875.2:c.1792G>C | XP_011514177.1:p.Gly598Arg | |
| XM_011515876.2:c.1873G>C | XP_011514178.1:p.Gly625Arg | |
| XM_011515877.2:c.1762G>C | XP_011514179.1:p.Gly588Arg | |
| XM_017011813.1:c.1786G>C | XP_016867302.1:p.Gly596Arg | |
| XM_017011814.2:c.1774G>C | XP_016867303.1:p.Gly592Arg | |
| NM_000501.4:c.1858G>C MANE Select | NP_000492.2:p.Gly620Arg | |
| NM_001081752.3:c.1771G>C | NP_001075221.1:p.Gly591Arg | |
| NM_001081753.3:c.1816G>C | NP_001075222.1:p.Gly606Arg | |
| NM_001081754.3:c.1873G>C | NP_001075223.1:p.Gly625Arg | |
| NM_001081755.3:c.1801G>C | NP_001075224.1:p.Gly601Arg | |
| NM_001278912.2:c.1858G>C | NP_001265841.1:p.Gly620Arg | |
| NM_001278913.2:c.1615G>C | NP_001265842.1:p.Gly539Arg | |
| NM_001278914.2:c.1786G>C | NP_001265843.1:p.Gly596Arg | |
| NM_001278915.2:c.1876G>C | NP_001265844.1:p.Gly626Arg | |
| NM_001278916.2:c.1714G>C | NP_001265845.1:p.Gly572Arg | |
| NM_001278917.2:c.1828G>C | NP_001265846.1:p.Gly610Arg | |
| NM_001278918.2:c.1591G>C | NP_001265847.1:p.Gly531Arg | |
| NM_001278939.2:c.2044G>C | NP_001265868.1:p.Gly682Arg |