Revel Score:
ENST00000419671
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001329 (AMR)
Exomes Max Group AF
0.00001782 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75147721C>A , CM000668.2:g.75147721C>A | GRCh38 |
| NC_000006.11:g.75857437C>A , CM000668.1:g.75857437C>A | GRCh37 |
| NC_000006.10:g.75914157C>A | NCBI36 |
| NG_042181.1:g.63187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.4371G>T MANE Select | ENSP00000325146.8:p.Val1457= | |
| ENST00000322507.12:c.4371G>T | ENSP00000325146.8:p.Val1457= | |
| ENST00000345356.10:c.879G>T | ENSP00000305147.9:p.Val293= | |
| ENST00000416123.6:c.4371G>T | ENSP00000412864.2:p.Val1457= | |
| ENST00000419671.1:c.595G>T | ||
| ENST00000483888.6:c.4371G>T | ENSP00000421216.1:p.Val1457= | |
| ENST00000615798.4:c.804G>T | ENSP00000483232.1:p.Val268= | |
| NM_004370.5:c.4371G>T | NP_004361.3:p.Val1457= | |
| NM_080645.2:c.879G>T | NP_542376.2:p.Val293= | |
| XM_011535434.1:c.4371G>T | XP_011533736.1:p.Val1457= | |
| XM_011535435.1:c.4098G>T | XP_011533737.1:p.Val1366= | |
| XM_011535436.1:c.879G>T | XP_011533738.1:p.Val293= | |
| XM_011535436.2:c.879G>T | XP_011533738.1:p.Val293= | |
| XM_017010252.2:c.4335G>T | XP_016865741.1:p.Val1445= | |
| NM_004370.6:c.4371G>T MANE Select | NP_004361.3:p.Val1457= | |
| NM_080645.3:c.879G>T | NP_542376.2:p.Val293= |