gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000125 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58389489C>T , CM000682.2:g.58389489C>T | GRCh38 |
| NC_000020.10:g.56964545C>T , CM000682.1:g.56964545C>T | GRCh37 |
| NC_000020.9:g.56397951C>T | NCBI36 |
| NG_008073.2:g.5301C>T , LRG_656:g.5301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475243.6:c.30C>T MANE Select | ENSP00000417175.1:p.Leu10= | |
| ENST00000265619.6:n.115C>T | ||
| ENST00000395802.7:c.30C>T | ENSP00000379147.3:p.Leu10= | |
| ENST00000475243.5:c.30C>T | ENSP00000417175.1:p.Leu10= | |
| ENST00000520497.1:c.30C>T | ENSP00000430426.1:p.Leu10= | |
| NM_001195677.1:c.30C>T | NP_001182606.1:p.Leu10= | |
| NM_004738.4:c.30C>T , LRG_656t1:c.30C>T | NP_004729.1:p.Leu10= | |
| NR_036633.1:n.371C>T | ||
| XR_001754433.2:n.279C>T | ||
| NM_001195677.2:c.30C>T | NP_001182606.1:p.Leu10= | |
| NM_004738.5:c.30C>T MANE Select | NP_004729.1:p.Leu10= | |
| NR_036633.2:n.261C>T |