Revel Score:
ENST00000313599 (MANE Select)
0.029
ENST00000416109
0.029
ENST00000396630
0.029
ENST00000545926
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23299808 (AFR)
Genomes Max Group AF
0.23050373 (AFR)
Exomes Max Group AF
0.23341591 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7396400C>G , CM000674.2:g.7396400C>G | GRCh38 |
| NC_000012.11:g.7548996C>G , CM000674.1:g.7548996C>G | GRCh37 |
| NC_000012.10:g.7440263C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313599.8:c.1745G>C MANE Select | ENSP00000315945.3:p.Gly582Ala | |
| ENST00000313599.7:c.1745G>C | ENSP00000315945.3:p.Gly582Ala | |
| ENST00000416109.2:c.1775G>C | ENSP00000393474.2:p.Gly592Ala | |
| ENST00000545926.1:c.362G>C | ENSP00000439921.1:p.Gly121Ala | |
| NM_001297650.1:c.1775G>C | NP_001284579.1:p.Gly592Ala | |
| NM_174941.5:c.1745G>C | NP_777601.2:p.Gly582Ala | |
| XM_011520616.1:c.1745G>C | XP_011518918.1:p.Gly582Ala | |
| XM_011520617.1:c.1670G>C | XP_011518919.1:p.Gly557Ala | |
| XM_011520618.1:c.1028G>C | XP_011518920.1:p.Gly343Ala | |
| XM_011520619.1:c.932G>C | XP_011518921.1:p.Gly311Ala | |
| XM_011520620.1:c.932G>C | XP_011518922.1:p.Gly311Ala | |
| XR_931282.1:n.1771G>C | ||
| XM_011520617.2:c.1670G>C | XP_011518919.1:p.Gly557Ala | |
| XM_011520618.3:c.1028G>C | XP_011518920.1:p.Gly343Ala | |
| XR_002957313.1:n.1771G>C | ||
| XR_931282.2:n.1771G>C | ||
| NM_001297650.2:c.1775G>C | NP_001284579.2:p.Gly592Ala | |
| NM_174941.6:c.1745G>C MANE Select | NP_777601.3:p.Gly582Ala |