Linked Data
ClinVar Variation Id:
290901
dbSNP Id:
rs747110790
ExAC:
17:36065056 T / A
gnomAD v2:
17-36065056-T-A
gnomAD v4:
17-37705049-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37705049T>A , CM000679.2:g.37705049T>A | GRCh38 |
| NC_000017.10:g.36065056T>A , CM000679.1:g.36065056T>A | GRCh37 |
| NC_000017.9:g.33139169T>A | NCBI36 |
| NG_013019.2:g.45058A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617811.5:c.1207A>T MANE Select | ENSP00000480291.1:p.Ile403Phe | |
| ENST00000613727.4:c.1129A>T | ENSP00000477524.1:p.Ile377Phe | |
| ENST00000614313.4:c.1207A>T | ENSP00000482529.1:p.Ile403Phe | |
| ENST00000617272.4:c.1208A>T | ENSP00000478682.1:p.Asp403Val | |
| ENST00000617811.4:c.1207A>T | ENSP00000480291.1:p.Ile403Phe | |
| ENST00000621123.4:c.1129A>T | ENSP00000482711.1:p.Ile377Phe | |
| NM_000458.3:c.1207A>T | NP_000449.1:p.Ile403Phe | |
| NM_001165923.3:c.1129A>T | NP_001159395.1:p.Ile377Phe | |
| NM_001304286.1:c.1129A>T | NP_001291215.1:p.Ile377Phe | |
| XM_011525160.1:c.1207A>T | XP_011523462.1:p.Ile403Phe | |
| XM_011525161.1:c.1207A>T | XP_011523463.1:p.Ile403Phe | |
| XM_011525164.1:c.1129A>T | XP_011523466.1:p.Ile377Phe | |
| XR_001752877.1:n.1469+234T>A | ||
| NM_000458.4:c.1207A>T MANE Select | NP_000449.1:p.Ile403Phe | |
| NM_001165923.4:c.1129A>T | NP_001159395.1:p.Ile377Phe | |
| NM_001304286.2:c.1129A>T | NP_001291215.1:p.Ile377Phe |