Revel Score:
ENST00000359596 (MANE Select)
0.667
ENST00000355481
0.667
ENST00000360985
0.667
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585013C>G , CM000681.2:g.38585013C>G | GRCh38 |
| NC_000019.9:g.39075653C>G , CM000681.1:g.39075653C>G | GRCh37 |
| NC_000019.8:g.43767493C>G | NCBI36 |
| NG_008866.1:g.156314C>G , LRG_766:g.156314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1653C>G | ||
| ENST00000688602.1:c.3050C>G | ||
| ENST00000689936.1:c.3022C>G | ||
| ENST00000692547.1:n.110C>G | ||
| ENST00000359596.8:c.14717C>G MANE Select | ENSP00000352608.2:p.Ala4906Gly | |
| ENST00000355481.8:c.14702C>G | ENSP00000347667.3:p.Ala4901Gly | |
| ENST00000359596.7:c.14717C>G | ENSP00000352608.2:p.Ala4906Gly | |
| ENST00000360985.7:c.14699C>G | ENSP00000354254.4:p.Ala4900Gly | |
| NM_000540.2:c.14717C>G , LRG_766t1:c.14717C>G | NP_000531.2:p.Ala4906Gly | |
| NM_001042723.1:c.14702C>G | NP_001036188.1:p.Ala4901Gly | |
| XM_006723317.1:c.14699C>G | XP_006723380.1:p.Ala4900Gly | |
| XM_006723319.1:c.14684C>G | XP_006723382.1:p.Ala4895Gly | |
| XM_011527204.1:c.14714C>G | XP_011525506.1:p.Ala4905Gly | |
| XM_011527205.1:c.14630C>G | XP_011525507.1:p.Ala4877Gly | |
| XM_006723317.2:c.14699C>G | XP_006723380.1:p.Ala4900Gly | |
| XM_006723319.2:c.14684C>G | XP_006723382.1:p.Ala4895Gly | |
| XM_011527205.2:c.14630C>G | XP_011525507.1:p.Ala4877Gly | |
| NM_000540.3:c.14717C>G MANE Select | NP_000531.2:p.Ala4906Gly | |
| NM_001042723.2:c.14702C>G | NP_001036188.1:p.Ala4901Gly |