Revel Score:
ENST00000417137
0.613
ENST00000344921
0.613
ENST00000263121
0.613
ENST00000407422
0.613
ENST00000407082
0.613
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012243 (EAS)
Exomes Max Group AF
0.00012053 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23787170A>G , CM000684.2:g.23787170A>G | GRCh38 |
| NC_000022.10:g.24129357A>G , CM000684.1:g.24129357A>G | GRCh37 |
| NC_000022.9:g.22459357A>G | NCBI36 |
| NG_009303.1:g.5208A>G , LRG_520:g.5208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.1A>G | ENSP00000263121.8:p.Met1Val | |
| ENST00000344921.11:c.1A>G | ENSP00000340883.6:p.Met1Val | |
| ENST00000407082.4:c.1A>G | ENSP00000385226.4:p.Met1Val | |
| ENST00000407422.8:c.1A>G | ENSP00000383984.3:p.Met1Val | |
| ENST00000417137.6:c.1A>G | ENSP00000388489.2:p.Met1Val | |
| ENST00000491967.2:n.191A>G | ||
| ENST00000644036.2:c.1A>G MANE Select | ENSP00000494049.2:p.Met1Val | |
| ENST00000644619.1:c.1A>G | ENSP00000494695.1:p.Met1Val | |
| ENST00000646421.1:n.193A>G | ||
| ENST00000647057.1:c.1A>G | ENSP00000494757.1:p.Met1Val | |
| ENST00000263121.11:c.1A>G | ENSP00000263121.7:p.Met1Val | |
| ENST00000344921.10:c.1A>G | ENSP00000340883.6:p.Met1Val | |
| ENST00000407082.3:c.1A>G | ENSP00000385226.3:p.Met1Val | |
| ENST00000407422.7:c.1A>G | ENSP00000383984.3:p.Met1Val | |
| ENST00000417137.5:c.1A>G | ENSP00000388489.1:p.Met1Val | |
| NM_001007468.1:c.1A>G | NP_001007469.1:p.Met1Val | |
| NM_003073.3:c.1A>G , LRG_520t1:c.1A>G | NP_003064.2:p.Met1Val | |
| XM_011530345.1:c.1A>G | XP_011528647.1:p.Met1Val | |
| XM_011530346.1:c.1A>G | XP_011528648.1:p.Met1Val | |
| NM_001007468.2:c.1A>G | NP_001007469.1:p.Met1Val | |
| NM_001317946.1:c.1A>G | NP_001304875.1:p.Met1Val | |
| NM_001362877.1:c.1A>G | NP_001349806.1:p.Met1Val | |
| NM_003073.4:c.1A>G | NP_003064.2:p.Met1Val | |
| NM_001007468.3:c.1A>G | NP_001007469.1:p.Met1Val | |
| NM_001317946.2:c.1A>G | NP_001304875.1:p.Met1Val | |
| NM_001362877.2:c.1A>G | NP_001349806.1:p.Met1Val | |
| NM_003073.5:c.1A>G MANE Select | NP_003064.2:p.Met1Val |