Revel Score:
ENST00000315266
0.336
ENST00000478722 (MANE Select)
0.336
ENST00000459628
0.336
ENST00000543237
0.336
ENST00000305960
0.336
ENST00000555456
0.336
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015396 (AMR)
Genomes Max Group AF
0.00002267 (AMR)
Exomes Max Group AF
0.00017193 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.66879951G>A , CM000676.2:g.66879951G>A | GRCh38 |
| NC_000014.8:g.67346669G>A , CM000676.1:g.67346669G>A | GRCh37 |
| NC_000014.7:g.66416422G>A | NCBI36 |
| NG_008875.1:g.377545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478722.6:c.307G>A MANE Select | ENSP00000417901.1:p.Val103Ile | |
| ENST00000315266.9:c.307G>A | ENSP00000312771.5:p.Val103Ile | |
| ENST00000459628.5:c.253G>A | ENSP00000452220.1:p.Val85Ile | |
| ENST00000478722.5:c.307G>A | ENSP00000417901.1:p.Val103Ile | |
| ENST00000543237.5:c.346G>A | ENSP00000438404.1:p.Val116Ile | |
| ENST00000544752.6:n.355G>A | ||
| ENST00000553936.5:c.*328G>A | ENSP00000451725.1:n.*328G>A | |
| ENST00000555456.1:c.106G>A | ENSP00000450706.1:p.Val36Ile | |
| ENST00000555668.5:c.*298G>A | ENSP00000451935.1:n.*298G>A | |
| ENST00000556633.5:c.*96G>A | ENSP00000451056.1:n.*96G>A | |
| ENST00000557654.5:c.*259G>A | ENSP00000451790.1:n.*259G>A | |
| NM_001024218.1:c.307G>A | NP_001019389.1:p.Val103Ile | |
| NM_020806.4:c.307G>A | NP_065857.1:p.Val103Ile | |
| XM_005267254.2:c.307G>A | XP_005267311.1:p.Val103Ile | |
| XM_011536340.1:c.346G>A | XP_011534642.1:p.Val116Ile | |
| XM_011536342.1:c.307G>A | XP_011534644.1:p.Val103Ile | |
| XM_011536343.1:c.346G>A | XP_011534645.1:p.Val116Ile | |
| XM_011536344.1:c.346G>A | XP_011534646.1:p.Val116Ile | |
| XM_011536345.1:c.346G>A | XP_011534647.1:p.Val116Ile | |
| XM_011536346.1:c.307G>A | XP_011534648.1:p.Val103Ile | |
| XM_011536347.1:c.346G>A | XP_011534649.1:p.Val116Ile | |
| XM_011536349.1:c.346G>A | XP_011534651.1:p.Val116Ile | |
| XM_005267254.4:c.307G>A | XP_005267311.1:p.Val103Ile | |
| XM_011536340.3:c.346G>A | XP_011534642.1:p.Val116Ile | |
| XM_011536342.3:c.307G>A | XP_011534644.1:p.Val103Ile | |
| XM_011536343.3:c.346G>A | XP_011534645.1:p.Val116Ile | |
| XM_011536344.3:c.346G>A | XP_011534646.1:p.Val116Ile | |
| XM_011536345.3:c.346G>A | XP_011534647.1:p.Val116Ile | |
| XM_011536346.3:c.307G>A | XP_011534648.1:p.Val103Ile | |
| XM_011536347.2:c.346G>A | XP_011534649.1:p.Val116Ile | |
| XM_017020913.2:c.346G>A | XP_016876402.1:p.Val116Ile | |
| XM_017020914.2:c.346G>A | XP_016876403.1:p.Val116Ile | |
| XM_017020915.2:c.346G>A | XP_016876404.1:p.Val116Ile | |
| XM_017020916.2:c.307G>A | XP_016876405.1:p.Val103Ile | |
| XM_017020917.2:c.346G>A | XP_016876406.1:p.Val116Ile | |
| XM_017020918.2:c.346G>A | XP_016876407.1:p.Val116Ile | |
| XM_017020919.2:c.307G>A | XP_016876408.1:p.Val103Ile | |
| XM_017020920.2:c.166G>A | XP_016876409.1:p.Val56Ile | |
| XM_017020921.1:c.-24G>A | XP_016876410.1:n.-24G>A | |
| XM_017020922.1:c.-24G>A | XP_016876411.1:n.-24G>A | |
| XM_017020923.1:c.-24G>A | XP_016876412.1:n.-24G>A | |
| XM_017020924.1:c.-666G>A | XP_016876413.1:n.-666G>A | |
| XM_017020925.2:c.346G>A | XP_016876414.1:p.Val116Ile | |
| XM_017020926.1:c.-666G>A | XP_016876415.1:n.-666G>A | |
| NM_001377514.1:c.346G>A | NP_001364443.1:p.Val116Ile | |
| NM_001377515.1:c.307G>A | NP_001364444.1:p.Val103Ile | |
| NM_001377516.1:c.307G>A | NP_001364445.1:p.Val103Ile | |
| NM_001377517.1:c.307G>A | NP_001364446.1:p.Val103Ile | |
| NM_001377518.1:c.307G>A | NP_001364447.1:p.Val103Ile | |
| NM_001377519.1:c.346G>A | NP_001364448.1:p.Val116Ile | |
| NM_001024218.2:c.307G>A | NP_001019389.1:p.Val103Ile | |
| NM_020806.5:c.307G>A MANE Select | NP_065857.1:p.Val103Ile |