ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007906 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00007949 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23854393C>T , CM000663.2:g.23854393C>T | GRCh38 |
| NC_000001.10:g.24180883C>T , CM000663.1:g.24180883C>T | GRCh37 |
| NC_000001.9:g.24053470C>T | NCBI36 |
| NG_013346.1:g.18977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.936G>A MANE Select | ENSP00000363603.3:p.Leu312= | |
| ENST00000374479.3:c.936G>A | ENSP00000363603.3:p.Leu312= | |
| NM_000147.4:c.936G>A | NP_000138.2:p.Leu312= | |
| XM_005245821.1:c.561G>A | XP_005245878.1:p.Leu187= | |
| XM_011541167.1:c.303G>A | XP_011539469.1:p.Leu101= | |
| XM_005245821.3:c.561G>A | XP_005245878.1:p.Leu187= | |
| XM_011541167.3:c.303G>A | XP_011539469.1:p.Leu101= | |
| XM_017000905.2:c.633G>A | XP_016856394.1:p.Leu211= | |
| NM_000147.5:c.936G>A MANE Select | NP_000138.2:p.Leu312= | |
| NR_174379.1:n.1114G>A | ||
| NR_174380.1:n.1163G>A | ||
| NR_174381.1:n.1002G>A | ||
| NR_174382.1:n.1399G>A |