Revel Score:
ENST00000312938 (MANE Select)
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032103 (AFR)
Genomes Max Group AF
0.00024073 (AFR)
Exomes Max Group AF
0.00032268 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101651414T>C , CM000665.2:g.101651414T>C | GRCh38 |
| NC_000003.11:g.101370258T>C , CM000665.1:g.101370258T>C | GRCh37 |
| NC_000003.10:g.102852948T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704109.1:n.1234A>G | ||
| ENST00000704110.1:n.2401A>G | ||
| ENST00000704111.1:c.2668A>G | ENSP00000515702.1:p.Met890Val | |
| ENST00000704112.1:n.3748A>G | ||
| ENST00000704113.1:n.4624A>G | ||
| ENST00000704114.1:n.1857A>G | ||
| ENST00000688910.1:c.2512A>G | ENSP00000510736.1:p.Met838Val | |
| ENST00000689142.1:c.*2208A>G | ENSP00000510054.1:n.*2208A>G | |
| ENST00000690624.1:c.2428A>G | ENSP00000509924.1:p.Met810Val | |
| ENST00000690651.1:c.*9A>G | ENSP00000510062.1:n.*9A>G | |
| ENST00000312938.5:c.2914A>G MANE Select | ENSP00000326200.4:p.Met972Val | |
| ENST00000312938.4:c.2914A>G | ENSP00000326200.4:p.Met972Val | |
| NM_014415.3:c.2914A>G | NP_055230.2:p.Met972Val | |
| XM_011512689.1:c.2719A>G | XP_011510991.1:p.Met907Val | |
| XM_011512690.1:c.2062A>G | XP_011510992.1:p.Met688Val | |
| XM_011512689.2:c.2719A>G | XP_011510991.1:p.Met907Val | |
| XM_011512690.2:c.2062A>G | XP_011510992.1:p.Met688Val | |
| NM_014415.4:c.2914A>G MANE Select | NP_055230.2:p.Met972Val |