Revel Score:
ENST00000224764
0.909
ENST00000372037 (MANE Select)
0.909
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86919384C>G , CM000672.2:g.86919384C>G | GRCh38 |
| NC_000010.10:g.88679141C>G , CM000672.1:g.88679141C>G | GRCh37 |
| NC_000010.9:g.88669121C>G | NCBI36 |
| NG_009362.1:g.167746C>G , LRG_298:g.167746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.1081C>G | ENSP00000483569.2:p.Arg361Gly | |
| ENST00000635816.2:c.1081C>G | ENSP00000489707.1:p.Arg361Gly | |
| ENST00000636056.2:c.1081C>G | ENSP00000490273.1:p.Arg361Gly | |
| ENST00000372037.8:c.1081C>G MANE Select | ENSP00000361107.2:p.Arg361Gly | |
| ENST00000635816.1:c.1081C>G | ENSP00000489707.1:p.Arg361Gly | |
| ENST00000636056.1:c.1081C>G | ENSP00000490273.1:p.Arg361Gly | |
| ENST00000638429.1:c.1081C>G | ENSP00000492290.1:p.Arg361Gly | |
| ENST00000372037.7:c.1081C>G | ENSP00000361107.1:p.Arg361Gly | |
| NM_004329.2:c.1081C>G , LRG_298t1:c.1081C>G | NP_004320.2:p.Arg361Gly | |
| XM_011540103.1:c.1081C>G | XP_011538405.1:p.Arg361Gly | |
| XM_011540104.1:c.1081C>G | XP_011538406.1:p.Arg361Gly | |
| XM_011540103.2:c.1081C>G | XP_011538405.1:p.Arg361Gly | |
| XM_011540104.2:c.1081C>G | XP_011538406.1:p.Arg361Gly | |
| NM_004329.3:c.1081C>G MANE Select | NP_004320.2:p.Arg361Gly |