Revel Score:
ENST00000438045
0.822
ENST00000248633 (MANE Select)
0.822
ENST00000428214
0.822
ENST00000545192
0.822
gnomAD v4:
Joint Max Group AF
0.00001818 (EAS)
Exomes Max Group AF
0.00002061 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92528434A>C , CM000669.2:g.92528434A>C | GRCh38 |
| NC_000007.13:g.92157748A>C , CM000669.1:g.92157748A>C | GRCh37 |
| NC_000007.12:g.91995684A>C | NCBI36 |
| NG_008341.1:g.5098T>G | |
| NG_008341.2:g.5098T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2T>G MANE Select | ENSP00000248633.4:p.Met1Arg | |
| ENST00000248633.8:c.2T>G | ENSP00000248633.4:p.Met1Arg | |
| ENST00000428214.5:c.2T>G | ENSP00000394413.1:p.Met1Arg | |
| ENST00000438045.5:c.2T>G | ENSP00000410438.1:p.Met1Arg | |
| ENST00000484913.5:n.6T>G | ||
| NM_000466.2:c.2T>G | NP_000457.1:p.Met1Arg | |
| NM_001282677.1:c.2T>G | NP_001269606.1:p.Met1Arg | |
| NM_001282678.1:c.-658T>G | NP_001269607.1:n.-658T>G | |
| XR_242246.3:n.98T>G | ||
| XR_242246.5:n.49T>G | ||
| NM_000466.3:c.2T>G MANE Select | NP_000457.1:p.Met1Arg | |
| NM_001282677.2:c.2T>G | NP_001269606.1:p.Met1Arg | |
| NM_001282678.2:c.-658T>G | NP_001269607.1:n.-658T>G |