ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000653 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55202535A>C , CM000669.2:g.55202535A>C | GRCh38 |
| NC_000007.13:g.55270228A>C , CM000669.1:g.55270228A>C | GRCh37 |
| NC_000007.12:g.55237722A>C | NCBI36 |
| NG_007726.3:g.188504A>C , LRG_304:g.188504A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.3022A>C | ENSP00000413354.2:p.Lys1008Gln | |
| ENST00000700145.1:c.900-2812A>C | ||
| ENST00000700146.1:n.925A>C | ||
| ENST00000700147.1:n.850A>C | ||
| ENST00000275493.7:c.3181A>C MANE Select | ENSP00000275493.2:p.Lys1061Gln | |
| ENST00000275493.6:c.3181A>C | ENSP00000275493.2:p.Lys1061Gln | |
| ENST00000442591.5:c.*28+29607A>C | ENSP00000410031.1:n.*28+29607A>C | |
| ENST00000454757.6:c.3046A>C | ENSP00000395243.3:p.Lys1016Gln | |
| ENST00000455089.5:c.3046A>C | ENSP00000415559.1:p.Lys1016Gln | |
| NM_005228.3:c.3181A>C , LRG_304t1:c.3181A>C | NP_005219.2:p.Lys1061Gln | |
| NM_001346897.1:c.3046A>C | NP_001333826.1:p.Lys1016Gln | |
| NM_001346898.1:c.3181A>C | NP_001333827.1:p.Lys1061Gln | |
| NM_001346899.1:c.3046A>C | NP_001333828.1:p.Lys1016Gln | |
| NM_001346900.1:c.3022A>C | NP_001333829.1:p.Lys1008Gln | |
| NM_001346941.1:c.2380A>C | NP_001333870.1:p.Lys794Gln | |
| NM_005228.4:c.3181A>C | NP_005219.2:p.Lys1061Gln | |
| NM_005228.5:c.3181A>C MANE Select | NP_005219.2:p.Lys1061Gln | |
| NM_001346897.2:c.3046A>C | NP_001333826.1:p.Lys1016Gln | |
| NM_001346898.2:c.3181A>C | NP_001333827.1:p.Lys1061Gln | |
| NM_001346900.2:c.3022A>C | NP_001333829.1:p.Lys1008Gln | |
| NM_001346941.2:c.2380A>C | NP_001333870.1:p.Lys794Gln | |
| NM_001346899.2:c.3046A>C | NP_001333828.1:p.Lys1016Gln |