gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057675 (EAS)
Genomes Max Group AF
0.0003803 (EAS)
Exomes Max Group AF
0.00054447 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16202036A>G , CM000678.2:g.16202036A>G | GRCh38 |
| NC_000016.9:g.16295893A>G , CM000678.1:g.16295893A>G | GRCh37 |
| NC_000016.8:g.16203394A>G | NCBI36 |
| NG_007558.2:g.26436T>C | |
| NG_007558.3:g.26582T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.1141T>C | ENSP00000507301.1:p.Leu381= | |
| ENST00000622290.5:c.1141T>C | ENSP00000483331.2:p.Leu381= | |
| ENST00000205557.12:c.1141T>C MANE Select | ENSP00000205557.7:p.Leu381= | |
| ENST00000205557.11:c.1141T>C | ENSP00000205557.7:p.Leu381= | |
| ENST00000456970.6:c.1141T>C | ENSP00000405002.2:p.Leu381= | |
| ENST00000574094.5:n.1237T>C | ||
| ENST00000577103.1:c.*1008T>C | ENSP00000459243.1:n.*1008T>C | |
| ENST00000622290.4:c.1141T>C | ENSP00000483331.1:p.Leu381= | |
| NM_001171.5:c.1141T>C | NP_001162.4:p.Leu381= | |
| XM_011522479.1:c.1141T>C | XP_011520781.1:p.Leu381= | |
| XM_011522480.1:c.799T>C | XP_011520782.1:p.Leu267= | |
| XM_011522481.1:c.799T>C | XP_011520783.1:p.Leu267= | |
| XM_011522482.1:c.1141T>C | XP_011520784.1:p.Leu381= | |
| XR_932836.1:n.1376T>C | ||
| XR_932837.1:n.1377T>C | ||
| XR_932838.1:n.1377T>C | ||
| NM_001351800.1:c.799T>C | NP_001338729.1:p.Leu267= | |
| NR_147784.1:n.1178T>C | ||
| XM_011522479.2:c.1141T>C | XP_011520781.1:p.Leu381= | |
| XM_011522481.3:c.799T>C | XP_011520783.1:p.Leu267= | |
| XM_011522482.3:c.1141T>C | XP_011520784.1:p.Leu381= | |
| XM_017023212.1:c.1141T>C | XP_016878701.1:p.Leu381= | |
| XM_017023214.1:c.1141T>C | XP_016878703.1:p.Leu381= | |
| XM_024450261.1:c.1177T>C | XP_024306029.1:p.Leu393= | |
| XR_932836.2:n.1322T>C | ||
| XR_932837.3:n.1322T>C | ||
| XR_932838.3:n.1322T>C | ||
| NM_001171.6:c.1141T>C MANE Select | NP_001162.5:p.Leu381= |