ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Revel Score:
ENST00000205402 (MANE Select)
0.795
ENST00000417551
0.795
ENST00000537148
0.795
ENST00000440410
0.795
ENST00000437604
0.795
ENST00000539590
0.795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917307A>G , CM000669.2:g.107917307A>G | GRCh38 |
| NC_000007.13:g.107557752A>G , CM000669.1:g.107557752A>G | GRCh37 |
| NC_000007.12:g.107344988A>G | NCBI36 |
| NG_008045.1:g.31167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1081A>G MANE Select | ENSP00000205402.3:p.Met361Val | |
| ENST00000205402.9:c.1081A>G | ENSP00000205402.3:p.Met361Val | |
| ENST00000415325.5:c.*755A>G | ENSP00000402593.1:n.*755A>G | |
| ENST00000417551.5:c.1081A>G | ENSP00000390667.1:p.Met361Val | |
| ENST00000437604.6:c.937A>G | ENSP00000387542.2:p.Met313Val | |
| ENST00000440410.5:c.1012A>G | ENSP00000417016.1:p.Met338Val | |
| NM_000108.4:c.1081A>G | NP_000099.2:p.Met361Val | |
| NM_001289750.1:c.784A>G | NP_001276679.1:p.Met262Val | |
| NM_001289751.1:c.1012A>G | NP_001276680.1:p.Met338Val | |
| NM_001289752.1:c.937A>G | NP_001276681.1:p.Met313Val | |
| NM_000108.5:c.1081A>G MANE Select | NP_000099.2:p.Met361Val |