Revel Score:
ENST00000356714 (MANE Select)
0.257
ENST00000397049
0.257
ENST00000397046
0.257
ENST00000397048
0.257
ENST00000343985
0.257
ENST00000339737
0.257
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06408132 (EAS)
Genomes Max Group AF
0.03623245 (EAS)
Exomes Max Group AF
0.06720992 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2249951G>A , CM000669.2:g.2249951G>A | GRCh38 |
| NC_000007.13:g.2289586G>A , CM000669.1:g.2289586G>A | GRCh37 |
| NC_000007.12:g.2256112G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356714.6:c.247G>A MANE Select | ENSP00000349148.1:p.Val83Met | |
| ENST00000339737.6:c.247G>A | ENSP00000343439.2:p.Val83Met | |
| ENST00000343985.8:c.316G>A | ENSP00000339503.4:p.Val106Met | |
| ENST00000356714.5:c.247G>A | ENSP00000349148.1:p.Val83Met | |
| ENST00000397046.5:c.247G>A | ENSP00000380239.1:p.Val83Met | |
| ENST00000397048.5:c.316G>A | ENSP00000380241.1:p.Val106Met | |
| ENST00000397049.2:c.247G>A | ENSP00000380242.2:p.Val83Met | |
| ENST00000487426.1:n.503G>A | ||
| NM_002452.3:c.247G>A | NP_002443.3:p.Val83Met | |
| NM_198948.1:c.247G>A | NP_945186.1:p.Val83Met | |
| NM_198949.1:c.316G>A | NP_945187.1:p.Val106Met | |
| NM_198950.1:c.247G>A | NP_945188.1:p.Val83Met | |
| NM_198952.1:c.316G>A | NP_945190.1:p.Val106Met | |
| NM_198953.1:c.247G>A | NP_945191.1:p.Val83Met | |
| NM_198954.1:c.316G>A | NP_945192.1:p.Val106Met | |
| NM_001367553.1:c.247G>A | NP_001354482.1:p.Val83Met | |
| NM_001367554.1:c.247G>A | NP_001354483.1:p.Val83Met | |
| NM_001367555.1:c.247G>A | NP_001354484.1:p.Val83Met | |
| NR_160264.1:n.477G>A | ||
| NM_002452.4:c.247G>A MANE Select | NP_002443.3:p.Val83Met | |
| NM_198948.2:c.247G>A | NP_945186.1:p.Val83Met | |
| NM_198949.2:c.316G>A | NP_945187.1:p.Val106Met | |
| NM_198950.2:c.247G>A | NP_945188.1:p.Val83Met | |
| NM_198952.2:c.316G>A | NP_945190.1:p.Val106Met |