Revel Score:
ENST00000339673 (MANE Select)
0.299
ENST00000282479
0.299
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00013428 (MID)
Exomes Max Group AF
0.00014155 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87656493A>G , CM000666.2:g.87656493A>G | GRCh38 |
| NC_000004.11:g.88577645A>G , CM000666.1:g.88577645A>G | GRCh37 |
| NC_000004.10:g.88796669A>G | NCBI36 |
| NG_008988.1:g.11192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282479.8:c.1A>G | ENSP00000282479.6:p.Met1Val | |
| ENST00000682752.1:c.1A>G | ENSP00000507436.1:p.Met1Val | |
| ENST00000682781.1:n.126A>G | ||
| ENST00000683764.1:n.164A>G | ||
| ENST00000684240.1:n.164A>G | ||
| ENST00000684389.1:n.125A>G | ||
| ENST00000339673.11:c.1A>G MANE Select | ENSP00000340935.6:p.Met1Val | |
| ENST00000282479.7:c.1A>G | ENSP00000282479.6:p.Met1Val | |
| ENST00000339673.10:c.1A>G | ENSP00000340935.6:p.Met1Val | |
| NM_001079911.2:c.1A>G | NP_001073380.1:p.Met1Val | |
| NM_004407.3:c.1A>G | NP_004398.1:p.Met1Val | |
| XM_011531705.1:c.88A>G | XP_011530007.1:p.Met30Val | |
| XM_011531706.1:c.88A>G | XP_011530008.1:p.Met30Val | |
| XM_011531705.2:c.88A>G | XP_011530007.1:p.Met30Val | |
| XM_011531706.2:c.88A>G | XP_011530008.1:p.Met30Val | |
| NM_001079911.3:c.1A>G | NP_001073380.1:p.Met1Val | |
| NM_004407.4:c.1A>G MANE Select | NP_004398.1:p.Met1Val |