ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002257 (AMR)
Exomes Max Group AF
0.00001783 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78132436C>T , CM000679.2:g.78132436C>T | GRCh38 |
| NC_000017.10:g.76128517C>T , CM000679.1:g.76128517C>T | GRCh37 |
| NC_000017.9:g.73640112C>T | NCBI36 |
| NG_007879.1:g.4972G>A , LRG_118:g.4972G>A | |
| NG_007881.1:g.6659C>T , LRG_119:g.6659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.79C>T | ||
| ENST00000698566.1:n.81C>T | ||
| ENST00000698567.1:n.81C>T | ||
| ENST00000318430.10:c.376C>T MANE Select | ENSP00000325561.4:p.Leu126Phe | |
| ENST00000318430.9:c.376C>T | ENSP00000325561.4:p.Leu126Phe | |
| ENST00000589691.1:c.-294C>T | ENSP00000467482.1:n.-294C>T | |
| ENST00000590799.5:c.560C>T | ENSP00000465049.1:p.Ala187Val | |
| NM_152468.4:c.376C>T , LRG_119t1:c.376C>T | NP_689681.2:p.Leu126Phe | |
| XM_011524402.1:c.376C>T | XP_011522704.1:p.Leu126Phe | |
| XM_011524403.1:c.376C>T | XP_011522705.1:p.Leu126Phe | |
| XM_011524404.1:c.376C>T | XP_011522706.1:p.Leu126Phe | |
| XM_011524405.1:c.262C>T | XP_011522707.1:p.Leu88Phe | |
| XM_011524406.1:c.376C>T | XP_011522708.1:p.Leu126Phe | |
| XM_011524409.1:c.376C>T | XP_011522711.1:p.Leu126Phe | |
| XM_011524410.1:c.376C>T | XP_011522712.1:p.Leu126Phe | |
| XM_011524411.1:c.376C>T | XP_011522713.1:p.Leu126Phe | |
| XR_934395.1:n.2685C>T | ||
| XR_934397.1:n.2685C>T | ||
| XR_934398.1:n.2685C>T | ||
| XR_934400.1:n.2685C>T | ||
| XM_017024244.1:c.376C>T | XP_016879733.1:p.Leu126Phe | |
| XM_024450617.1:c.376C>T | XP_024306385.1:p.Leu126Phe | |
| XM_024450618.1:c.376C>T | XP_024306386.1:p.Leu126Phe | |
| XM_024450619.1:c.376C>T | XP_024306387.1:p.Leu126Phe | |
| XM_024450620.1:c.376C>T | XP_024306388.1:p.Leu126Phe | |
| XM_024450621.1:c.376C>T | XP_024306389.1:p.Leu126Phe | |
| XM_024450622.1:c.376C>T | XP_024306390.1:p.Leu126Phe | |
| XM_024450623.1:c.376C>T | XP_024306391.1:p.Leu126Phe | |
| XM_024450624.1:c.376C>T | XP_024306392.1:p.Leu126Phe | |
| XM_024450625.1:c.376C>T | XP_024306393.1:p.Leu126Phe | |
| XM_024450626.1:c.376C>T | XP_024306394.1:p.Leu126Phe | |
| XM_024450627.1:c.376C>T | XP_024306395.1:p.Leu126Phe | |
| XR_002957973.1:n.457C>T | ||
| XR_002957974.1:n.457C>T | ||
| XR_002957975.1:n.457C>T | ||
| XR_002957976.1:n.457C>T | ||
| XR_002957977.1:n.457C>T | ||
| XR_002957978.1:n.457C>T | ||
| XR_002957979.1:n.457C>T | ||
| NM_152468.5:c.376C>T MANE Select | NP_689681.2:p.Leu126Phe |