Linked Data
ClinVar Variation Id:
99789
dbSNP Id:
rs11650007
ExAC:
17:6337404 G / A
gnomAD v2:
17-6337404-G-A
gnomAD v3:
17-6434084-G-A
gnomAD v4:
17-6434084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6434084G>A , CM000679.2:g.6434084G>A | GRCh38 |
| NC_000017.10:g.6337404G>A , CM000679.1:g.6337404G>A | GRCh37 |
| NC_000017.9:g.6278128G>A | NCBI36 |
| NG_008474.1:g.6116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.111C>T MANE Select | ENSP00000370521.3:p.Phe37= | |
| ENST00000250087.9:c.111C>T | ENSP00000250087.5:p.Phe37= | |
| ENST00000381128.2:c.169C>T | ENSP00000370520.2:p.Pro57Ser | |
| ENST00000381129.7:c.111C>T | ENSP00000370521.3:p.Phe37= | |
| ENST00000570466.5:c.97-52C>T | ENSP00000461287.1:n.97-52C>T | |
| ENST00000570584.5:c.86C>T | ||
| ENST00000571740.5:c.111C>T | ENSP00000460134.1:p.Phe37= | |
| ENST00000574506.5:c.97-22C>T | ENSP00000458456.1:n.97-22C>T | |
| ENST00000574913.1:c.111C>T | ENSP00000460672.1:p.Phe37= | |
| ENST00000575265.5:c.111C>T | ENSP00000459673.1:p.Phe37= | |
| ENST00000576307.5:c.96+925C>T | ENSP00000459522.1:n.96+925C>T | |
| ENST00000576776.5:c.111C>T | ENSP00000460827.1:p.Phe37= | |
| ENST00000621374.4:c.111C>T | ENSP00000481337.1:p.Phe37= | |
| NM_001033054.2:c.111C>T | NP_001028226.1:p.Phe37= | |
| NM_001033055.2:c.96+925C>T | NP_001028227.1:n.96+925C>T | |
| NM_001285399.2:c.97-22C>T | NP_001272328.1:n.97-22C>T | |
| NM_001285400.2:c.97-52C>T | NP_001272329.1:n.97-52C>T | |
| NM_001285401.2:c.111C>T | NP_001272330.1:p.Phe37= | |
| NM_001285402.1:c.-7C>T | NP_001272331.1:n.-7C>T | |
| NM_001285403.2:c.111C>T | NP_001272332.1:p.Phe37= | |
| NM_014336.4:c.111C>T | NP_055151.3:p.Phe37= | |
| NM_001033054.3:c.111C>T | NP_001028226.1:p.Phe37= | |
| NM_001033055.3:c.96+925C>T | NP_001028227.1:n.96+925C>T | |
| NM_001285399.3:c.97-22C>T | NP_001272328.1:n.97-22C>T | |
| NM_001285400.3:c.97-52C>T | NP_001272329.1:n.97-52C>T | |
| NM_001285401.3:c.111C>T | NP_001272330.1:p.Phe37= | |
| NM_001285402.2:c.-7C>T | NP_001272331.1:n.-7C>T | |
| NM_001285403.3:c.111C>T | NP_001272332.1:p.Phe37= | |
| NM_014336.5:c.111C>T MANE Select | NP_055151.3:p.Phe37= | |
| NM_001285403.4:c.111C>T | NP_001272332.1:p.Phe37= |