ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038499 (SAS)
Genomes Max Group AF
0.00007285 (SAS)
Exomes Max Group AF
0.0003873 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150946885G>C , CM000669.2:g.150946885G>C | GRCh38 |
| NC_000007.13:g.150643973G>C , CM000669.1:g.150643973G>C | GRCh37 |
| NC_000007.12:g.150274906G>C | NCBI36 |
| NG_008916.1:g.36042C>G , LRG_288:g.36042C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4155C>G | ||
| ENST00000262186.10:c.3322C>G MANE Select | ENSP00000262186.5:p.Leu1108Val | |
| ENST00000330883.9:c.2302C>G | ENSP00000328531.4:p.Leu768Val | |
| ENST00000262186.9:c.3322C>G | ENSP00000262186.5:p.Leu1108Val | |
| ENST00000330883.8:c.2302C>G | ENSP00000328531.4:p.Leu768Val | |
| NM_000238.3:c.3322C>G , LRG_288t1:c.3322C>G | NP_000229.1:p.Leu1108Val | |
| NM_172057.2:c.2302C>G , LRG_288t3:c.2302C>G | NP_742054.1:p.Leu768Val | |
| XM_011516185.1:c.3022C>G | XP_011514487.1:p.Leu1008Val | |
| XM_011516185.2:c.3022C>G | XP_011514487.1:p.Leu1008Val | |
| XM_017012195.1:c.3172C>G | XP_016867684.1:p.Leu1058Val | |
| XM_017012196.1:c.3145C>G | XP_016867685.1:p.Leu1049Val | |
| NM_000238.4:c.3322C>G MANE Select | NP_000229.1:p.Leu1108Val | |
| NM_172057.3:c.2302C>G | NP_742054.1:p.Leu768Val |