gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00067299 (SAS)
Genomes Max Group AF
0.00053957 (SAS)
Exomes Max Group AF
0.00064826 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710739G>A , CM000678.2:g.50710739G>A | GRCh38 |
| NC_000016.9:g.50744650G>A , CM000678.1:g.50744650G>A | GRCh37 |
| NC_000016.8:g.49302151G>A | NCBI36 |
| NG_007508.1:g.18601G>A , LRG_177:g.18601G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.747G>A | ENSP00000493088.1:p.Leu249= | |
| ENST00000646677.2:c.747G>A | ENSP00000496533.1:p.Leu249= | |
| ENST00000641284.1:c.747G>A | ENSP00000493088.1:p.Leu249= | |
| ENST00000646677.1:c.747G>A | ENSP00000496533.1:p.Leu249= | |
| ENST00000647318.2:c.747G>A MANE Select | ENSP00000495993.1:p.Leu249= | |
| ENST00000300589.6:c.828G>A | ENSP00000300589.2:p.Leu276= | |
| ENST00000526417.6:n.888G>A | ||
| ENST00000527070.5:c.*1443G>A | ENSP00000435149.1:n.*1443G>A | |
| ENST00000532206.1:n.826G>A | ||
| NM_001293557.1:c.747G>A | NP_001280486.1:p.Leu249= | |
| NM_022162.2:c.828G>A | NP_071445.1:p.Leu276= | |
| XM_005256084.2:c.747G>A | XP_005256141.1:p.Leu249= | |
| XM_006721242.2:c.747G>A | XP_006721305.1:p.Leu249= | |
| XM_006721243.2:c.747G>A | XP_006721306.1:p.Leu249= | |
| XM_011523257.1:c.324G>A | XP_011521559.1:p.Leu108= | |
| XM_011523258.1:c.324G>A | XP_011521560.1:p.Leu108= | |
| XM_011523259.1:c.162G>A | XP_011521561.1:p.Leu54= | |
| XM_011523260.1:c.747G>A | XP_011521562.1:p.Leu249= | |
| XM_011523261.1:c.747G>A | XP_011521563.1:p.Leu249= | |
| XR_429725.2:n.837G>A | ||
| XR_429726.2:n.837G>A | ||
| XR_933387.1:n.837G>A | ||
| XM_005256084.4:c.747G>A | XP_005256141.1:p.Leu249= | |
| XM_006721242.4:c.747G>A | XP_006721305.1:p.Leu249= | |
| XM_006721243.4:c.747G>A | XP_006721306.1:p.Leu249= | |
| XM_011523259.2:c.162G>A | XP_011521561.1:p.Leu54= | |
| XM_011523260.3:c.747G>A | XP_011521562.1:p.Leu249= | |
| XM_011523261.2:c.747G>A | XP_011521563.1:p.Leu249= | |
| XM_017023535.1:c.255G>A | XP_016879024.1:p.Leu85= | |
| XM_017023536.1:c.162G>A | XP_016879025.1:p.Leu54= | |
| XM_017023537.1:c.162G>A | XP_016879026.1:p.Leu54= | |
| XM_017023538.1:c.162G>A | XP_016879027.1:p.Leu54= | |
| XR_429725.3:n.790G>A | ||
| XR_429726.3:n.790G>A | ||
| XR_933387.2:n.790G>A | ||
| NM_001293557.2:c.747G>A | NP_001280486.1:p.Leu249= | |
| NM_001370466.1:c.747G>A MANE Select | NP_001357395.1:p.Leu249= | |
| NM_022162.3:c.828G>A | NP_071445.1:p.Leu276= | |
| NR_163434.1:n.812G>A |