gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000228 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000225 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8055712C>T , CM000672.2:g.8055712C>T | GRCh38 |
| NC_000010.10:g.8097675C>T , CM000672.1:g.8097675C>T | GRCh37 |
| NC_000010.9:g.8137681C>T | NCBI36 |
| NG_015859.1:g.6009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.57C>T | ENSP00000341619.3:p.Leu19= | |
| ENST00000379328.9:c.57C>T MANE Select | ENSP00000368632.3:p.Leu19= | |
| ENST00000481743.2:c.57C>T | ENSP00000493486.1:p.Leu19= | |
| ENST00000643001.1:c.57C>T | ENSP00000494284.1:p.Leu19= | |
| ENST00000346208.3:c.57C>T | ENSP00000341619.3:p.Leu19= | |
| ENST00000379328.7:c.57C>T | ENSP00000368632.3:p.Leu19= | |
| NM_001002295.1:c.57C>T | NP_001002295.1:p.Leu19= | |
| NM_002051.2:c.57C>T | NP_002042.1:p.Leu19= | |
| XM_005252442.2:c.57C>T | XP_005252499.1:p.Leu19= | |
| XM_005252443.3:c.57C>T | XP_005252500.1:p.Leu19= | |
| XM_005252443.5:c.57C>T | XP_005252500.1:p.Leu19= | |
| XR_001747358.1:n.618-973G>A | ||
| NM_001002295.2:c.57C>T MANE Select | NP_001002295.1:p.Leu19= | |
| NM_002051.3:c.57C>T | NP_002042.1:p.Leu19= |