Revel Score:
ENST00000277541
0.220
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00628088 (AFR)
Genomes Max Group AF
0.0059242 (AFR)
Exomes Max Group AF
0.00628453 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136496450C>G , CM000671.2:g.136496450C>G | GRCh38 |
| NC_000009.11:g.139390902C>G , CM000671.1:g.139390902C>G | GRCh37 |
| NC_000009.10:g.138510723C>G | NCBI36 |
| NG_007458.1:g.54337G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.7289G>C MANE Select | ENSP00000498587.1:p.Gly2430Ala | |
| ENST00000679595.1:c.*2329G>C | ENSP00000506241.1:n.*2329G>C | |
| ENST00000679969.1:n.3885G>C | ||
| ENST00000680003.1:n.3621G>C | ||
| ENST00000680133.1:c.7175G>C | ENSP00000505319.1:p.Gly2392Ala | |
| ENST00000680218.1:c.7169G>C | ENSP00000505339.1:p.Gly2390Ala | |
| ENST00000680668.1:c.7175G>C | ENSP00000506336.1:p.Gly2392Ala | |
| ENST00000680778.1:c.4886G>C | ENSP00000506033.1:p.Gly1629Ala | |
| ENST00000680924.1:c.*4689G>C | ENSP00000506031.1:n.*4689G>C | |
| ENST00000681135.1:c.*4898G>C | ENSP00000506636.1:n.*4898G>C | |
| ENST00000681298.1:n.5394G>C | ||
| ENST00000681454.1:c.*6525G>C | ENSP00000505763.1:n.*6525G>C | |
| ENST00000277541.6:c.7289G>C | ENSP00000277541.6:p.Gly2430Ala | |
| NM_017617.3:c.7289G>C | NP_060087.3:p.Gly2430Ala | |
| XM_011518717.1:c.6590G>C | XP_011517019.1:p.Gly2197Ala | |
| NM_017617.5:c.7289G>C MANE Select | NP_060087.3:p.Gly2430Ala | |
| XM_011518717.2:c.6566G>C | XP_011517019.2:p.Gly2189Ala |