Revel Score:
ENST00000248923
0.316
ENST00000411974
0.316
ENST00000412658
0.316
ENST00000445029
0.316
ENST00000419133
0.316
ENST00000400382 (MANE Select)
0.316
ENST00000452551
0.316
ENST00000400383
0.316
ENST00000412898
0.316
ENST00000400380
0.316
ENST00000455483
0.316
ENST00000430289
0.316
ENST00000447416
0.316
ENST00000432867
0.316
ENST00000451366
0.316
ENST00000406383
0.316
ENST00000428855
0.316
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004561 (SAS)
Exomes Max Group AF
0.00004794 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24611208G>A , CM000684.2:g.24611208G>A | GRCh38 |
| NC_000022.10:g.25007175G>A , CM000684.1:g.25007175G>A | GRCh37 |
| NC_000022.9:g.23337175G>A | NCBI36 |
| NG_008111.1:g.32458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400382.6:c.127G>A MANE Select | ENSP00000383232.1:p.Val43Met | |
| ENST00000651180.1:n.614G>A | ||
| ENST00000652248.1:c.*617G>A | ENSP00000499210.1:n.*617G>A | |
| ENST00000248923.8:c.127G>A | ENSP00000248923.4:p.Val43Met | |
| ENST00000400380.5:c.127G>A | ENSP00000383231.1:p.Val43Met | |
| ENST00000400382.5:c.127G>A | ENSP00000383232.1:p.Val43Met | |
| ENST00000411974.5:c.127G>A | ENSP00000389935.1:p.Val43Met | |
| ENST00000412658.5:c.127G>A | ENSP00000393537.1:p.Val43Met | |
| ENST00000412898.5:c.127G>A | ENSP00000408151.1:p.Val43Met | |
| ENST00000419133.5:c.127G>A | ENSP00000395271.1:p.Val43Met | |
| ENST00000425895.5:c.127G>A | ENSP00000387499.1:p.Val43Met | |
| ENST00000428855.5:c.127G>A | ENSP00000415068.1:p.Val43Met | |
| ENST00000430289.5:c.127G>A | ENSP00000417044.1:p.Val43Met | |
| ENST00000432867.5:c.127G>A | ENSP00000398589.1:p.Val43Met | |
| ENST00000445029.5:c.127G>A | ENSP00000393135.1:p.Val43Met | |
| ENST00000447416.5:c.127G>A | ENSP00000400621.1:p.Val43Met | |
| ENST00000451366.5:c.127G>A | ENSP00000387796.1:p.Val43Met | |
| ENST00000452551.5:c.127G>A | ENSP00000415553.1:p.Val43Met | |
| ENST00000455483.5:c.127G>A | ENSP00000415024.1:p.Val43Met | |
| ENST00000474191.6:n.300G>A | ||
| NM_001288833.1:c.127G>A | NP_001275762.1:p.Val43Met | |
| NM_013421.2:c.127G>A | NP_038265.2:p.Val43Met | |
| NM_013430.2:c.127G>A | NP_038347.2:p.Val43Met | |
| NM_001288833.2:c.127G>A MANE Select | NP_001275762.1:p.Val43Met | |
| NM_013421.3:c.127G>A | NP_038265.2:p.Val43Met | |
| NM_013430.3:c.127G>A | NP_038347.2:p.Val43Met |