Linked Data
dbSNP Id:
rs184500788
ExAC:
10:103534603 G / A
gnomAD v2:
10-103534603-G-A
gnomAD v3:
10-101774846-G-A
gnomAD v4:
10-101774846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774846G>A , CM000672.2:g.101774846G>A | GRCh38 |
| NC_000010.10:g.103534603G>A , CM000672.1:g.103534603G>A | GRCh37 |
| NC_000010.9:g.103524593G>A | NCBI36 |
| NG_007151.1:g.6225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.223C>T MANE Select | ENSP00000321797.2:p.Leu75Phe | |
| ENST00000618991.5:c.-90C>T | ENSP00000484420.1:n.-90C>T | |
| ENST00000344255.8:c.190C>T | ENSP00000340039.3:p.Leu64Phe | |
| ENST00000320185.6:c.223C>T | ENSP00000321797.2:p.Leu75Phe | |
| ENST00000344255.7:c.190C>T | ENSP00000340039.3:p.Leu64Phe | |
| ENST00000346714.7:c.103C>T | ENSP00000344306.3:p.Leu35Phe | |
| ENST00000347978.2:c.136C>T | ENSP00000321945.2:p.Leu46Phe | |
| ENST00000469792.6:c.*187C>T | ENSP00000473299.1:n.*187C>T | |
| ENST00000485728.1:n.99C>T | ||
| ENST00000618991.4:c.-90C>T | ENSP00000484420.1:n.-90C>T | |
| NM_001206389.1:c.-90C>T | NP_001193318.1:n.-90C>T | |
| NM_006119.4:c.136C>T | NP_006110.1:p.Leu46Phe | |
| NM_033163.3:c.223C>T | NP_149353.1:p.Leu75Phe | |
| NM_033164.3:c.190C>T | NP_149354.1:p.Leu64Phe | |
| NM_033165.3:c.103C>T | NP_149355.1:p.Leu35Phe | |
| XM_011539509.1:c.145C>T | XP_011537811.1:p.Leu49Phe | |
| NM_006119.5:c.136C>T | NP_006110.1:p.Leu46Phe | |
| NM_033163.4:c.223C>T | NP_149353.1:p.Leu75Phe | |
| NM_033164.4:c.190C>T | NP_149354.1:p.Leu64Phe | |
| NM_033165.4:c.103C>T | NP_149355.1:p.Leu35Phe | |
| NM_001206389.2:c.-90C>T | NP_001193318.1:n.-90C>T | |
| NM_006119.6:c.136C>T | NP_006110.1:p.Leu46Phe | |
| NM_033163.5:c.223C>T MANE Select | NP_149353.1:p.Leu75Phe | |
| NM_033165.5:c.103C>T | NP_149355.1:p.Leu35Phe |