Linked Data
ClinVar Variation Id:
3160013
ClinVar RCV Id:
RCV004452915
dbSNP Id:
rs760364677
ExAC:
4:25158529 G / A
gnomAD v2:
4-25158529-G-A
gnomAD v3:
4-25156907-G-A
gnomAD v4:
4-25156907-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156907G>A , CM000666.2:g.25156907G>A | GRCh38 |
| NC_000004.11:g.25158529G>A , CM000666.1:g.25158529G>A | GRCh37 |
| NC_000004.10:g.24767627G>A | NCBI36 |
| NG_028222.1:g.8676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.337C>T MANE Select | ENSP00000371535.2:p.Leu113Phe | |
| ENST00000680581.1:c.337C>T | ENSP00000506483.1:p.Leu113Phe | |
| ENST00000680824.1:n.1553C>T | ||
| ENST00000681071.1:n.629C>T | ||
| ENST00000681166.1:n.1384C>T | ||
| ENST00000681341.1:n.1478C>T | ||
| ENST00000681640.1:n.431C>T | ||
| ENST00000681948.1:c.592C>T | ENSP00000505991.1:p.Leu198Phe | |
| ENST00000358971.7:c.*135C>T | ENSP00000351857.3:n.*135C>T | |
| ENST00000382103.6:c.337C>T | ENSP00000371535.2:p.Leu113Phe | |
| ENST00000514585.5:c.*38C>T | ENSP00000421880.1:n.*38C>T | |
| NM_016955.3:c.337C>T | NP_058651.3:p.Leu113Phe | |
| XM_005248168.2:c.100C>T | XP_005248225.1:p.Leu34Phe | |
| XM_006713965.2:c.157C>T | XP_006714028.1:p.Leu53Phe | |
| XM_011513846.1:c.334C>T | XP_011512148.1:p.Leu112Phe | |
| XM_011513847.1:c.304C>T | XP_011512149.1:p.Leu102Phe | |
| XM_011513848.1:c.157C>T | XP_011512150.1:p.Leu53Phe | |
| XM_011513846.2:c.334C>T | XP_011512148.1:p.Leu112Phe | |
| XM_011513847.2:c.304C>T | XP_011512149.1:p.Leu102Phe | |
| XM_017008277.1:c.592C>T | XP_016863766.1:p.Leu198Phe | |
| XM_017008278.1:c.-87C>T | XP_016863767.1:n.-87C>T | |
| NM_016955.4:c.337C>T MANE Select | NP_058651.3:p.Leu113Phe |