gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23427802C>A , CM000676.2:g.23427802C>A | GRCh38 |
| NC_000014.8:g.23897011C>A , CM000676.1:g.23897011C>A | GRCh37 |
| NC_000014.7:g.22966851C>A | NCBI36 |
| NG_007884.1:g.12860G>T , LRG_384:g.12860G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1671G>T MANE Select | ENSP00000347507.3:p.Leu557= | |
| ENST00000355349.3:c.1671G>T | ENSP00000347507.3:p.Leu557= | |
| NM_000257.3:c.1671G>T | NP_000248.2:p.Leu557= | |
| XR_245686.3:n.1777G>T | ||
| XM_017021340.1:c.1671G>T | XP_016876829.1:p.Leu557= | |
| NM_000257.4:c.1671G>T MANE Select | NP_000248.2:p.Leu557= |