Revel Score:
ENST00000322507 (MANE Select)
0.046
ENST00000425443
0.046
ENST00000432784
0.046
ENST00000345356
0.046
ENST00000416123
0.046
ENST00000483888
0.046
ENST00000493109
0.046
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00360787 (AFR)
Genomes Max Group AF
0.00260272 (AFR)
Exomes Max Group AF
0.00460327 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75113256A>G , CM000668.2:g.75113256A>G | GRCh38 |
| NC_000006.11:g.75822972A>G , CM000668.1:g.75822972A>G | GRCh37 |
| NC_000006.10:g.75879692A>G | NCBI36 |
| NG_042181.1:g.97652T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7898T>C MANE Select | ENSP00000325146.8:p.Val2633Ala | |
| ENST00000322507.12:c.7898T>C | ENSP00000325146.8:p.Val2633Ala | |
| ENST00000345356.10:c.4406T>C | ENSP00000305147.9:p.Val1469Ala | |
| ENST00000416123.6:c.7898T>C | ENSP00000412864.2:p.Val2633Ala | |
| ENST00000425443.6:c.812T>C | ENSP00000399812.2:p.Val271Ala | |
| ENST00000483888.6:c.7898T>C | ENSP00000421216.1:p.Val2633Ala | |
| ENST00000493109.2:c.560T>C | ENSP00000423423.1:p.Val187Ala | |
| ENST00000615798.4:c.4331T>C | ENSP00000483232.1:p.Val1444Ala | |
| NM_004370.5:c.7898T>C | NP_004361.3:p.Val2633Ala | |
| NM_080645.2:c.4406T>C | NP_542376.2:p.Val1469Ala | |
| XM_011535434.1:c.7898T>C | XP_011533736.1:p.Val2633Ala | |
| XM_011535435.1:c.7625T>C | XP_011533737.1:p.Val2542Ala | |
| XM_011535436.1:c.4406T>C | XP_011533738.1:p.Val1469Ala | |
| XM_011535436.2:c.4406T>C | XP_011533738.1:p.Val1469Ala | |
| XM_017010252.2:c.7862T>C | XP_016865741.1:p.Val2621Ala | |
| NM_004370.6:c.7898T>C MANE Select | NP_004361.3:p.Val2633Ala | |
| NM_080645.3:c.4406T>C | NP_542376.2:p.Val1469Ala |