Revel Score:
ENST00000261584 (MANE Select)
0.400
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607883G>C , CM000678.2:g.23607883G>C | GRCh38 |
| NC_000016.9:g.23619204G>C , CM000678.1:g.23619204G>C | GRCh37 |
| NC_000016.8:g.23526705G>C | NCBI36 |
| NG_007406.1:g.38475C>G , LRG_308:g.38475C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3337C>G | ENSP00000460666.3:p.Pro1113Ala | |
| ENST00000565038.2:c.*812C>G | ENSP00000459882.2:n.*812C>G | |
| ENST00000566069.6:c.3202-4214C>G | ENSP00000459237.2:n.3202-4214C>G | |
| ENST00000697377.2:c.3175C>G | ENSP00000513286.2:p.Pro1059Ala | |
| ENST00000697379.2:c.3337C>G | ENSP00000513287.2:p.Pro1113Ala | |
| ENST00000561514.2:c.2446C>G | ENSP00000460666.2:p.Pro816Ala | |
| ENST00000697374.1:c.2446C>G | ENSP00000513284.1:p.Pro816Ala | |
| ENST00000697375.1:n.4678C>G | ||
| ENST00000697376.1:c.2317-4214C>G | ENSP00000513285.1:n.2317-4214C>G | |
| ENST00000697377.1:c.2284C>G | ENSP00000513286.1:p.Pro762Ala | |
| ENST00000697378.1:n.3851C>G | ||
| ENST00000697379.1:c.2446C>G | ENSP00000513287.1:p.Pro816Ala | |
| ENST00000697380.1:n.2535C>G | ||
| ENST00000697381.1:n.2026C>G | ||
| ENST00000697382.1:c.*108C>G | ENSP00000513288.1:n.*108C>G | |
| ENST00000697383.1:c.865C>G | ENSP00000513289.1:p.Pro289Ala | |
| ENST00000261584.9:c.3331C>G MANE Select | ENSP00000261584.4:p.Pro1111Ala | |
| ENST00000261584.8:c.3331C>G | ENSP00000261584.4:p.Pro1111Ala | |
| ENST00000566069.5:c.117-4214C>G | ||
| ENST00000568219.5:c.2446C>G | ENSP00000454703.2:p.Pro816Ala | |
| NM_024675.3:c.3331C>G , LRG_308t1:c.3331C>G | NP_078951.2:p.Pro1111Ala | |
| XM_011545946.1:c.3337C>G | XP_011544248.1:p.Pro1113Ala | |
| XM_011545947.1:c.3208-4214C>G | XP_011544249.1:n.3208-4214C>G | |
| XM_011545948.1:c.2446C>G | XP_011544250.1:p.Pro816Ala | |
| XR_950851.1:n.4039C>G | ||
| XM_011545946.2:c.3337C>G | XP_011544248.1:p.Pro1113Ala | |
| XM_011545947.2:c.3208-4214C>G | XP_011544249.1:n.3208-4214C>G | |
| XM_011545948.2:c.2446C>G | XP_011544250.1:p.Pro816Ala | |
| XM_017023671.1:c.3120-4214C>G | XP_016879160.1:n.3120-4214C>G | |
| XM_017023672.2:c.3114-4214C>G | XP_016879161.1:n.3114-4214C>G | |
| XM_017023673.2:c.3202-4214C>G | XP_016879162.1:n.3202-4214C>G | |
| NM_024675.4:c.3331C>G MANE Select | NP_078951.2:p.Pro1111Ala |