gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000187 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.6e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.128883275T>G , CM000668.2:g.128883275T>G | GRCh38 |
| NC_000006.11:g.129204420T>G , CM000668.1:g.129204420T>G | GRCh37 |
| NC_000006.10:g.129246113T>G | NCBI36 |
| NG_008678.1:g.5135T>G , LRG_409:g.5135T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.30T>G | ENSP00000481744.2:p.Leu10= | |
| ENST00000618192.5:c.30T>G | ENSP00000480802.2:p.Leu10= | |
| ENST00000686577.1:n.96T>G | ||
| ENST00000686599.1:n.135T>G | ||
| ENST00000421865.3:c.30T>G MANE Select | ENSP00000400365.2:p.Leu10= | |
| ENST00000421865.2:c.30T>G | ENSP00000400365.2:p.Leu10= | |
| ENST00000617695.4:c.30T>G | ENSP00000481744.1:p.Leu10= | |
| ENST00000618192.4:c.30T>G | ENSP00000480802.1:p.Leu10= | |
| NM_000426.3:c.30T>G , LRG_409t1:c.30T>G | NP_000417.2:p.Leu10= | |
| NM_001079823.1:c.30T>G | NP_001073291.1:p.Leu10= | |
| XM_005266981.2:c.30T>G | XP_005267038.1:p.Leu10= | |
| XM_005266982.2:c.30T>G | XP_005267039.1:p.Leu10= | |
| XM_011535820.1:c.30T>G | XP_011534122.1:p.Leu10= | |
| XM_005266981.3:c.30T>G | XP_005267038.1:p.Leu10= | |
| XM_005266982.3:c.30T>G | XP_005267039.1:p.Leu10= | |
| XM_011535820.2:c.30T>G | XP_011534122.1:p.Leu10= | |
| XM_017010853.1:c.30T>G | XP_016866342.1:p.Leu10= | |
| NM_000426.4:c.30T>G MANE Select | NP_000417.3:p.Leu10= | |
| NM_001079823.2:c.30T>G | NP_001073291.2:p.Leu10= |