gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00718943 (EAS)
Genomes Max Group AF
0.00701115 (EAS)
Exomes Max Group AF
0.00699701 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69331058T>G , CM000678.2:g.69331058T>G | GRCh38 |
| NC_000016.9:g.69364961T>G , CM000678.1:g.69364961T>G | GRCh37 |
| NC_000016.8:g.67922462T>G | NCBI36 |
| NG_009013.1:g.13566A>C | |
| NG_033043.1:g.4538A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.1620A>C MANE Select | ENSP00000305459.6:p.Leu540= | |
| ENST00000306875.8:c.1620A>C | ENSP00000305459.4:p.Leu540= | |
| ENST00000562595.5:c.549+4268A>C | ||
| ENST00000562949.1:c.352-1879A>C | ENSP00000457718.1:n.352-1879A>C | |
| NM_032382.4:c.1620A>C | NP_115758.3:p.Leu540= | |
| NM_032382.5:c.1620A>C MANE Select | NP_115758.3:p.Leu540= | |
| NM_001379261.1:c.1761A>C | NP_001366190.1:p.Leu587= | |
| NM_001379262.1:c.1620A>C | NP_001366191.1:p.Leu540= | |
| NM_001379263.1:c.1659A>C | NP_001366192.1:p.Leu553= | |
| NM_001379264.1:c.1620A>C | NP_001366193.1:p.Leu540= | |
| NM_001379265.1:c.1582+1656A>C | NP_001366194.1:n.1582+1656A>C | |
| NM_001379266.1:c.1414-1879A>C | NP_001366195.1:n.1414-1879A>C |