Linked Data
ClinVar Variation Id:
324622
dbSNP Id:
rs190887679
ExAC:
17:6337433 G / A
gnomAD v2:
17-6337433-G-A
gnomAD v3:
17-6434113-G-A
gnomAD v4:
17-6434113-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6434113G>A , CM000679.2:g.6434113G>A | GRCh38 |
| NC_000017.10:g.6337433G>A , CM000679.1:g.6337433G>A | GRCh37 |
| NC_000017.9:g.6278157G>A | NCBI36 |
| NG_008474.1:g.6087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.97-15C>T MANE Select | ENSP00000370521.3:n.97-15C>T | |
| ENST00000250087.9:c.97-15C>T | ENSP00000250087.5:n.97-15C>T | |
| ENST00000381128.2:c.155-15C>T | ENSP00000370520.2:n.155-15C>T | |
| ENST00000381129.7:c.97-15C>T | ENSP00000370521.3:n.97-15C>T | |
| ENST00000570466.5:c.97-81C>T | ENSP00000461287.1:n.97-81C>T | |
| ENST00000570584.5:c.72-15C>T | ||
| ENST00000571740.5:c.97-15C>T | ENSP00000460134.1:n.97-15C>T | |
| ENST00000574506.5:c.97-51C>T | ENSP00000458456.1:n.97-51C>T | |
| ENST00000574913.1:c.97-15C>T | ENSP00000460672.1:n.97-15C>T | |
| ENST00000575265.5:c.97-15C>T | ENSP00000459673.1:n.97-15C>T | |
| ENST00000576307.5:c.96+896C>T | ENSP00000459522.1:n.96+896C>T | |
| ENST00000576776.5:c.97-15C>T | ENSP00000460827.1:n.97-15C>T | |
| ENST00000621374.4:c.97-15C>T | ENSP00000481337.1:n.97-15C>T | |
| NM_001033054.2:c.97-15C>T | NP_001028226.1:n.97-15C>T | |
| NM_001033055.2:c.96+896C>T | NP_001028227.1:n.96+896C>T | |
| NM_001285399.2:c.97-51C>T | NP_001272328.1:n.97-51C>T | |
| NM_001285400.2:c.97-81C>T | NP_001272329.1:n.97-81C>T | |
| NM_001285401.2:c.97-15C>T | NP_001272330.1:n.97-15C>T | |
| NM_001285402.1:c.-21-15C>T | NP_001272331.1:n.-21-15C>T | |
| NM_001285403.2:c.97-15C>T | NP_001272332.1:n.97-15C>T | |
| NM_014336.4:c.97-15C>T | NP_055151.3:n.97-15C>T | |
| NM_001033054.3:c.97-15C>T | NP_001028226.1:n.97-15C>T | |
| NM_001033055.3:c.96+896C>T | NP_001028227.1:n.96+896C>T | |
| NM_001285399.3:c.97-51C>T | NP_001272328.1:n.97-51C>T | |
| NM_001285400.3:c.97-81C>T | NP_001272329.1:n.97-81C>T | |
| NM_001285401.3:c.97-15C>T | NP_001272330.1:n.97-15C>T | |
| NM_001285402.2:c.-21-15C>T | NP_001272331.1:n.-21-15C>T | |
| NM_001285403.3:c.97-15C>T | NP_001272332.1:n.97-15C>T | |
| NM_014336.5:c.97-15C>T MANE Select | NP_055151.3:n.97-15C>T | |
| NM_001285403.4:c.97-15C>T | NP_001272332.1:n.97-15C>T |