Revel Score:
ENST00000357654 (MANE Select)
0.781
ENST00000412061
0.781
ENST00000352993
0.781
ENST00000346315
0.781
ENST00000351666
0.781
ENST00000309486
0.781
ENST00000468300
0.781
ENST00000393691
0.781
ENST00000471181
0.781
ENST00000493795
0.781
ENST00000491747
0.781
ENST00000478531
0.781
ENST00000484087
0.781
ENST00000493919
0.781
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063901C>T , CM000679.2:g.43063901C>T | GRCh38 |
| NC_000017.10:g.41215918C>T , CM000679.1:g.41215918C>T | GRCh37 |
| NC_000017.9:g.38469444C>T | NCBI36 |
| NG_005905.2:g.154083G>A , LRG_292:g.154083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5122G>A | ENSP00000417241.2:p.Gly1708Arg | |
| ENST00000470026.6:c.5125G>A | ENSP00000419274.2:p.Gly1709Arg | |
| ENST00000473961.6:c.4999G>A | ENSP00000420201.2:p.Gly1667Arg | |
| ENST00000476777.6:c.5119G>A | ENSP00000417554.2:p.Gly1707Arg | |
| ENST00000477152.6:c.5047G>A | ENSP00000419988.2:p.Gly1683Arg | |
| ENST00000478531.6:c.1813G>A | ENSP00000420412.2:p.Gly605Arg | |
| ENST00000489037.2:c.5047G>A | ENSP00000420781.2:p.Gly1683Arg | |
| ENST00000493919.6:c.1675G>A | ENSP00000418819.2:p.Gly559Arg | |
| ENST00000494123.6:c.5125G>A | ENSP00000419103.2:p.Gly1709Arg | |
| ENST00000497488.2:c.4237G>A | ENSP00000418986.2:p.Gly1413Arg | |
| ENST00000618469.2:c.5125G>A | ENSP00000478114.2:p.Gly1709Arg | |
| ENST00000634433.2:c.5002G>A | ENSP00000489431.2:p.Gly1668Arg | |
| ENST00000644379.2:c.5191G>A | ENSP00000496570.2:p.Gly1731Arg | |
| ENST00000644555.2:c.1675G>A | ENSP00000494614.2:p.Gly559Arg | |
| ENST00000652672.2:c.4984G>A | ENSP00000498906.2:p.Gly1662Arg | |
| ENST00000484087.6:c.1687G>A | ENSP00000419481.2:p.Gly563Arg | |
| ENST00000357654.9:c.5125G>A MANE Select | ENSP00000350283.3:p.Gly1709Arg | |
| ENST00000471181.7:c.5188G>A | ENSP00000418960.2:p.Gly1730Arg | |
| ENST00000644379.1:c.1512G>A | ||
| ENST00000352993.7:c.1699G>A | ENSP00000312236.5:p.Gly567Arg | |
| ENST00000357654.7:c.5125G>A | ENSP00000350283.3:p.Gly1709Arg | |
| ENST00000461221.5:c.*4908G>A | ENSP00000418548.1:n.*4908G>A | |
| ENST00000468300.5:c.1813G>A | ENSP00000417148.1:p.Gly605Arg | |
| ENST00000471181.6:c.5188G>A | ENSP00000418960.2:p.Gly1730Arg | |
| ENST00000478531.5:c.1813G>A | ENSP00000420412.1:p.Gly605Arg | |
| ENST00000484087.5:c.1438G>A | ENSP00000419481.1:p.Gly480Arg | |
| ENST00000491747.6:c.1813G>A | ENSP00000420705.2:p.Gly605Arg | |
| ENST00000493795.5:c.4984G>A | ENSP00000418775.1:p.Gly1662Arg | |
| ENST00000493919.5:c.1675G>A | ENSP00000418819.1:p.Gly559Arg | |
| ENST00000586385.5:c.55G>A | ENSP00000465818.1:p.Gly19Arg | |
| ENST00000591534.5:c.598G>A | ENSP00000467329.1:p.Gly200Arg | |
| ENST00000591849.5:c.-98-13711G>A | ENSP00000465347.1:n.-98-13711G>A | |
| NM_007294.3:c.5125G>A , LRG_292t1:c.5125G>A | NP_009225.1:p.Gly1709Arg | |
| NM_007297.3:c.4984G>A | NP_009228.2:p.Gly1662Arg | |
| NM_007298.3:c.1813G>A | NP_009229.2:p.Gly605Arg | |
| NM_007299.3:c.1813G>A | NP_009230.2:p.Gly605Arg | |
| NM_007300.3:c.5188G>A | NP_009231.2:p.Gly1730Arg | |
| NR_027676.1:n.5261G>A | ||
| NM_007294.4:c.5125G>A MANE Select | NP_009225.1:p.Gly1709Arg | |
| NM_007297.4:c.4984G>A | NP_009228.2:p.Gly1662Arg | |
| NM_007299.4:c.1813G>A | NP_009230.2:p.Gly605Arg | |
| NM_007300.4:c.5188G>A | NP_009231.2:p.Gly1730Arg | |
| NR_027676.2:n.5302G>A |