gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0017857 (AMR)
Genomes Max Group AF
0.00035367 (AMR)
Exomes Max Group AF
0.00219074 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88832079C>A , CM000678.2:g.88832079C>A | GRCh38 |
| NC_000016.9:g.88898487C>A , CM000678.1:g.88898487C>A | GRCh37 |
| NC_000016.8:g.87425988C>A | NCBI36 |
| NG_008667.1:g.29888G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.921G>T MANE Select | ENSP00000268695.5:p.Leu307= | |
| ENST00000268695.9:c.921G>T | ENSP00000268695.5:p.Leu307= | |
| ENST00000562593.5:n.4330G>T | ||
| ENST00000562931.5:n.509G>T | ||
| ENST00000567525.5:c.602G>T | ENSP00000454484.1:n.602G>T | |
| ENST00000568613.5:c.1040G>T | ENSP00000457921.1:n.1040G>T | |
| NM_000512.4:c.921G>T | NP_000503.1:p.Leu307= | |
| XM_005256301.2:c.921G>T | XP_005256358.1:p.Leu307= | |
| XM_005256302.1:c.939G>T | XP_005256359.1:p.Leu313= | |
| XM_011522982.1:c.939G>T | XP_011521284.1:p.Leu313= | |
| XM_011522984.1:c.939G>T | XP_011521286.1:p.Leu313= | |
| NM_001323543.1:c.366G>T | NP_001310472.1:p.Leu122= | |
| NM_001323544.1:c.939G>T | NP_001310473.1:p.Leu313= | |
| XM_005256301.3:c.921G>T | XP_005256358.1:p.Leu307= | |
| XM_011522982.2:c.939G>T | XP_011521284.1:p.Leu313= | |
| XM_017023111.2:c.939G>T | XP_016878600.1:p.Leu313= | |
| XM_017023112.2:c.939G>T | XP_016878601.1:p.Leu313= | |
| XM_017023113.1:c.366G>T | XP_016878602.1:p.Leu122= | |
| NM_000512.5:c.921G>T MANE Select | NP_000503.1:p.Leu307= | |
| NM_001323543.2:c.366G>T | NP_001310472.1:p.Leu122= | |
| NM_001323544.2:c.939G>T | NP_001310473.1:p.Leu313= |