Revel Score:
ENST00000236938 (MANE Select)
0.060
ENST00000367959
0.060
ENST00000546024
0.060
ENST00000540521
0.060
ENST00000367949
0.060
ENST00000350710
0.060
ENST00000540926
0.060
ENST00000367957
0.060
ENST00000349527
0.060
ENST00000309691
0.060
ENST00000294796
0.060
ENST00000367953
0.060
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000501 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161707317T>G , CM000663.2:g.161707317T>G | GRCh38 |
| NC_000001.10:g.161677107T>G , CM000663.1:g.161677107T>G | GRCh37 |
| NC_000001.9:g.159943731T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236938.12:c.53T>G MANE Select | ENSP00000236938.7:p.Val18Gly | |
| ENST00000367950.2:c.23T>G | ENSP00000356927.2:p.Val8Gly | |
| ENST00000367957.7:c.53T>G | ENSP00000356934.3:p.Val18Gly | |
| ENST00000674251.1:c.104T>G | ENSP00000501389.1:p.Val35Gly | |
| ENST00000674323.1:c.104T>G | ENSP00000501449.1:p.Val35Gly | |
| ENST00000236938.10:c.104T>G | ENSP00000236938.6:p.Val35Gly | |
| ENST00000294796.8:c.53T>G | ENSP00000294796.4:p.Val18Gly | |
| ENST00000309691.10:c.53T>G | ENSP00000309596.6:p.Val18Gly | |
| ENST00000349527.8:c.53T>G | ENSP00000294798.7:p.Val18Gly | |
| ENST00000350710.3:c.104T>G | ENSP00000344808.3:p.Val35Gly | |
| ENST00000367949.6:c.104T>G | ENSP00000356926.2:p.Val35Gly | |
| ENST00000367950.1:c.-17T>G | ENSP00000356927.1:n.-17T>G | |
| ENST00000367953.7:c.53T>G | ENSP00000356930.3:p.Val18Gly | |
| ENST00000367957.6:c.104T>G | ENSP00000356934.2:p.Val35Gly | |
| ENST00000367959.6:c.104T>G | ENSP00000356936.2:p.Val35Gly | |
| ENST00000465403.1:n.79T>G | ||
| ENST00000540521.5:c.104T>G | ENSP00000442870.1:p.Val35Gly | |
| ENST00000546024.5:c.104T>G | ENSP00000439838.1:p.Val35Gly | |
| NM_001184866.1:c.104T>G | NP_001171795.1:p.Val35Gly | |
| NM_001184867.1:c.104T>G | NP_001171796.1:p.Val35Gly | |
| NM_001184870.1:c.104T>G | NP_001171799.1:p.Val35Gly | |
| NM_001184871.1:c.104T>G | NP_001171800.1:p.Val35Gly | |
| NM_001184872.1:c.104T>G | NP_001171801.1:p.Val35Gly | |
| NM_001184873.1:c.104T>G | NP_001171802.1:p.Val35Gly | |
| NM_032738.3:c.104T>G | NP_116127.3:p.Val35Gly | |
| XM_006711581.2:c.104T>G | XP_006711644.1:p.Val35Gly | |
| XM_011510064.1:c.53T>G | XP_011508366.1:p.Val18Gly | |
| XM_011510065.1:c.104T>G | XP_011508367.1:p.Val35Gly | |
| XM_011510066.1:c.104T>G | XP_011508368.1:p.Val35Gly | |
| NM_001366195.1:c.104T>G | NP_001353124.1:p.Val35Gly | |
| NM_001366196.1:c.104T>G | NP_001353125.1:p.Val35Gly | |
| XM_006711581.3:c.104T>G | XP_006711644.1:p.Val35Gly | |
| NM_001184866.2:c.53T>G | NP_001171795.2:p.Val18Gly | |
| NM_001184867.2:c.53T>G | NP_001171796.2:p.Val18Gly | |
| NM_001184870.2:c.53T>G | NP_001171799.2:p.Val18Gly | |
| NM_001184871.2:c.53T>G | NP_001171800.2:p.Val18Gly | |
| NM_001184872.2:c.53T>G | NP_001171801.2:p.Val18Gly | |
| NM_001184873.2:c.53T>G | NP_001171802.2:p.Val18Gly | |
| NM_001366195.2:c.53T>G | NP_001353124.2:p.Val18Gly | |
| NM_001366196.2:c.53T>G | NP_001353125.2:p.Val18Gly | |
| NM_032738.4:c.53T>G MANE Select | NP_116127.4:p.Val18Gly |