Revel Score:
ENST00000202917 (MANE Select)
0.000
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011211 (NFE)
Genomes Max Group AF
0.00006806 (NFE)
Exomes Max Group AF
0.000111 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112919432G>T , CM000674.2:g.112919432G>T | GRCh38 |
| NC_000012.11:g.113357237G>T , CM000674.1:g.113357237G>T | GRCh37 |
| NC_000012.10:g.111841620G>T | NCBI36 |
| NG_011530.1:g.17499G>T | |
| NG_011530.2:g.17499G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000202917.10:c.1082G>T MANE Select | ENSP00000202917.5:p.Arg361Met | |
| ENST00000445409.7:c.1039-55G>T | ENSP00000388001.2:n.1039-55G>T | |
| ENST00000452357.7:c.*1675G>T | ENSP00000415721.2:n.*1675G>T | |
| ENST00000540589.3:c.1039-55G>T | ENSP00000474083.2:n.1039-55G>T | |
| ENST00000549820.2:n.1957G>T | ||
| ENST00000550883.2:c.*2657G>T | ENSP00000450286.2:n.*2657G>T | |
| ENST00000551241.6:c.1038+1732G>T | ENSP00000448790.1:n.1038+1732G>T | |
| ENST00000552526.2:c.1082G>T | ENSP00000475139.2:p.Arg361Met | |
| ENST00000553152.2:c.*719G>T | ENSP00000449053.2:n.*719G>T | |
| ENST00000679413.1:n.3300G>T | ||
| ENST00000679467.1:c.1097G>T | ENSP00000506593.1:p.Arg366Met | |
| ENST00000679494.1:c.928G>T | ENSP00000505090.1:p.Gly310Cys | |
| ENST00000679767.1:c.*423G>T | ENSP00000505476.1:n.*423G>T | |
| ENST00000679971.1:c.565-55G>T | ENSP00000505786.1:n.565-55G>T | |
| ENST00000679987.1:c.1103G>T | ENSP00000504970.1:p.Arg368Met | |
| ENST00000680189.1:c.1082G>T | ENSP00000505572.1:p.Arg361Met | |
| ENST00000680455.1:c.608G>T | ENSP00000505165.1:p.Arg203Met | |
| ENST00000680522.1:c.*591G>T | ENSP00000506485.1:n.*591G>T | |
| ENST00000680659.1:c.*70G>T | ENSP00000504942.1:n.*70G>T | |
| ENST00000680919.1:c.*376G>T | ENSP00000506474.1:n.*376G>T | |
| ENST00000680934.1:c.885-55G>T | ENSP00000505028.1:n.885-55G>T | |
| ENST00000681228.1:c.995G>T | ENSP00000505703.1:p.Arg332Met | |
| ENST00000681436.1:n.7069G>T | ||
| ENST00000681505.1:c.*423G>T | ENSP00000505794.1:n.*423G>T | |
| ENST00000681700.1:c.1058G>T | ENSP00000506580.1:p.Arg353Met | |
| ENST00000681934.1:c.1082G>T | ENSP00000505482.1:p.Arg361Met | |
| ENST00000202917.9:c.1082G>T | ENSP00000202917.5:p.Arg361Met | |
| ENST00000445409.6:c.1039-55G>T | ENSP00000388001.2:n.1039-55G>T | |
| ENST00000551241.5:c.1038+1732G>T | ENSP00000448790.1:n.1038+1732G>T | |
| ENST00000552526.1:c.44G>T | ENSP00000475139.1:p.Arg15Met | |
| NM_001032409.1:c.1039-55G>T | NP_001027581.1:n.1039-55G>T | |
| NM_016816.2:c.1082G>T | NP_058132.2:p.Arg361Met | |
| XM_006719434.1:c.*719G>T | XP_006719497.1:n.*719G>T | |
| XM_011538413.1:c.1015-55G>T | XP_011536715.1:n.1015-55G>T | |
| XM_011538414.1:c.1038+1732G>T | XP_011536716.1:n.1038+1732G>T | |
| XR_944557.1:n.1125G>T | ||
| NM_001032409.2:c.1039-55G>T | NP_001027581.1:n.1039-55G>T | |
| NM_001320151.1:c.1038+1732G>T | NP_001307080.1:n.1038+1732G>T | |
| NM_016816.3:c.1082G>T | NP_058132.2:p.Arg361Met | |
| XM_006719434.2:c.*719G>T | XP_006719497.1:n.*719G>T | |
| XM_011538413.2:c.1015-55G>T | XP_011536715.1:n.1015-55G>T | |
| XM_017019361.2:c.1058G>T | XP_016874850.1:p.Arg353Met | |
| XM_017019362.1:c.593G>T | XP_016874851.1:p.Arg198Met | |
| NM_016816.4:c.1082G>T MANE Select | NP_058132.2:p.Arg361Met | |
| NM_001032409.3:c.1039-55G>T | NP_001027581.1:n.1039-55G>T | |
| NM_001320151.2:c.1038+1732G>T | NP_001307080.1:n.1038+1732G>T |