gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084105 (AFR)
Genomes Max Group AF
0.00095808 (AFR)
Exomes Max Group AF
0.00054389 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969700G>C , CM000668.2:g.42969700G>C | GRCh38 |
| NC_000006.11:g.42937438G>C , CM000668.1:g.42937438G>C | GRCh37 |
| NC_000006.10:g.43045416G>C | NCBI36 |
| NG_008370.1:g.14544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1335C>G MANE Select | ENSP00000303511.8:p.Leu445= | |
| ENST00000244546.4:c.1335C>G | ENSP00000244546.4:p.Leu445= | |
| ENST00000304611.12:c.1335C>G | ENSP00000303511.8:p.Leu445= | |
| NM_000287.3:c.1335C>G | NP_000278.3:p.Leu445= | |
| NM_001316313.1:c.1071C>G | NP_001303242.1:p.Leu357= | |
| NR_133009.1:n.1428C>G | ||
| XM_011514661.1:c.1251C>G | XP_011512963.1:p.Leu417= | |
| XR_926246.1:n.1428C>G | ||
| XM_011514661.2:c.1251C>G | XP_011512963.1:p.Leu417= | |
| XR_001743466.2:n.2409C>G | ||
| NM_000287.4:c.1335C>G MANE Select | NP_000278.3:p.Leu445= | |
| NM_001316313.2:c.1071C>G | NP_001303242.1:p.Leu357= | |
| NR_133009.2:n.1366C>G |