Revel Score:
ENST00000264380 (MANE Select)
0.239
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00461595 (SAS)
Genomes Max Group AF
0.00377351 (SAS)
Exomes Max Group AF
0.00458466 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208340070A>G , CM000664.2:g.208340070A>G | GRCh38 |
| NC_000002.11:g.209204794A>G , CM000664.1:g.209204794A>G | GRCh37 |
| NC_000002.10:g.208913039A>G | NCBI36 |
| NG_021188.1:g.78804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.4870A>G MANE Select | ENSP00000264380.4:p.Met1624Val | |
| ENST00000264380.8:c.4870A>G | ENSP00000264380.4:p.Met1624Val | |
| NM_015040.3:c.4870A>G | NP_055855.2:p.Met1624Val | |
| XM_011510778.1:c.4906A>G | XP_011509080.1:p.Met1636Val | |
| XM_011510779.1:c.4906A>G | XP_011509081.1:p.Met1636Val | |
| XM_011510780.1:c.4903A>G | XP_011509082.1:p.Met1635Val | |
| XM_011510781.1:c.4888A>G | XP_011509083.1:p.Met1630Val | |
| XM_011510782.1:c.4906A>G | XP_011509084.1:p.Met1636Val | |
| XM_011510783.1:c.4738A>G | XP_011509085.1:p.Met1580Val | |
| XM_011510784.1:c.4735A>G | XP_011509086.1:p.Met1579Val | |
| XM_011510785.1:c.4720A>G | XP_011509087.1:p.Met1574Val | |
| XM_011510786.1:c.4615A>G | XP_011509088.1:p.Met1539Val | |
| XM_011510787.1:c.4612A>G | XP_011509089.1:p.Met1538Val | |
| XM_011510788.1:c.4579A>G | XP_011509090.1:p.Met1527Val | |
| XM_011510789.1:c.4429A>G | XP_011509091.1:p.Met1477Val | |
| XM_011510790.1:c.3913A>G | XP_011509092.1:p.Met1305Val | |
| XM_011510791.1:c.3913A>G | XP_011509093.1:p.Met1305Val | |
| XR_922888.1:n.5043A>G | ||
| XM_011510778.3:c.4906A>G | XP_011509080.1:p.Met1636Val | |
| XM_011510779.2:c.4906A>G | XP_011509081.1:p.Met1636Val | |
| XM_011510780.2:c.4903A>G | XP_011509082.1:p.Met1635Val | |
| XM_011510781.3:c.4888A>G | XP_011509083.1:p.Met1630Val | |
| XM_011510782.3:c.4906A>G | XP_011509084.1:p.Met1636Val | |
| XM_011510783.3:c.4738A>G | XP_011509085.1:p.Met1580Val | |
| XM_011510784.2:c.4735A>G | XP_011509086.1:p.Met1579Val | |
| XM_011510785.3:c.4720A>G | XP_011509087.1:p.Met1574Val | |
| XM_011510786.3:c.4615A>G | XP_011509088.1:p.Met1539Val | |
| XM_011510789.2:c.4429A>G | XP_011509091.1:p.Met1477Val | |
| XM_017003568.1:c.4852A>G | XP_016859057.1:p.Met1618Val | |
| XM_017003569.1:c.4684A>G | XP_016859058.1:p.Met1562Val | |
| XM_017003570.1:c.4411A>G | XP_016859059.1:p.Met1471Val | |
| XM_017003571.1:c.4261A>G | XP_016859060.1:p.Met1421Val | |
| XM_017003572.1:c.3913A>G | XP_016859061.1:p.Met1305Val | |
| XM_017003573.1:c.3913A>G | XP_016859062.1:p.Met1305Val | |
| XM_017003574.1:c.3913A>G | XP_016859063.1:p.Met1305Val | |
| NM_015040.4:c.4870A>G MANE Select | NP_055855.2:p.Met1624Val |