Linked Data
ClinVar Variation Id:
324620
dbSNP Id:
rs761622978
ExAC:
17:6331726 A / T
gnomAD v2:
17-6331726-A-T
gnomAD v3:
17-6428406-A-T
gnomAD v4:
17-6428406-A-T
MyVariant Identifiers:
chr17:g.6331726A>T (hg19)
chr17:g.6331726_6331729delinsTTGT (hg19)
chr17:g.6428406A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6428406A>T , CM000679.2:g.6428406A>T | GRCh38 |
| NC_000017.10:g.6331726A>T , CM000679.1:g.6331726A>T | GRCh37 |
| NC_000017.9:g.6272450A>T | NCBI36 |
| NG_008474.1:g.11794T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.377T>A MANE Select | ENSP00000370521.3:p.Met126Lys | |
| ENST00000250087.9:c.277-1349T>A | ENSP00000250087.5:n.277-1349T>A | |
| ENST00000381128.2:c.*249T>A | ENSP00000370520.2:n.*249T>A | |
| ENST00000381129.7:c.377T>A | ENSP00000370521.3:p.Met126Lys | |
| ENST00000570466.5:c.311T>A | ENSP00000461287.1:p.Met104Lys | |
| ENST00000570584.5:c.251+5513T>A | ||
| ENST00000571740.5:c.377T>A | ENSP00000460134.1:p.Met126Lys | |
| ENST00000574506.5:c.341T>A | ENSP00000458456.1:p.Met114Lys | |
| ENST00000574913.1:c.377T>A | ENSP00000460672.1:p.Met126Lys | |
| ENST00000575265.5:c.377T>A | ENSP00000459673.1:p.Met126Lys | |
| ENST00000576307.5:c.197T>A | ENSP00000459522.1:p.Met66Lys | |
| ENST00000576776.5:c.377T>A | ENSP00000460827.1:p.Met126Lys | |
| ENST00000621374.4:c.377T>A | ENSP00000481337.1:p.Met126Lys | |
| NM_001033054.2:c.277-1349T>A | NP_001028226.1:n.277-1349T>A | |
| NM_001033055.2:c.197T>A | NP_001028227.1:p.Met66Lys | |
| NM_001285399.2:c.341T>A | NP_001272328.1:p.Met114Lys | |
| NM_001285400.2:c.311T>A | NP_001272329.1:p.Met104Lys | |
| NM_001285401.2:c.377T>A | NP_001272330.1:p.Met126Lys | |
| NM_001285402.1:c.260T>A | NP_001272331.1:p.Met87Lys | |
| NM_001285403.2:c.377T>A | NP_001272332.1:p.Met126Lys | |
| NM_014336.4:c.377T>A | NP_055151.3:p.Met126Lys | |
| NM_001033054.3:c.277-1349T>A | NP_001028226.1:n.277-1349T>A | |
| NM_001033055.3:c.197T>A | NP_001028227.1:p.Met66Lys | |
| NM_001285399.3:c.341T>A | NP_001272328.1:p.Met114Lys | |
| NM_001285400.3:c.311T>A | NP_001272329.1:p.Met104Lys | |
| NM_001285401.3:c.377T>A | NP_001272330.1:p.Met126Lys | |
| NM_001285402.2:c.260T>A | NP_001272331.1:p.Met87Lys | |
| NM_001285403.3:c.377T>A | NP_001272332.1:p.Met126Lys | |
| NM_014336.5:c.377T>A MANE Select | NP_055151.3:p.Met126Lys | |
| NM_001285403.4:c.377T>A | NP_001272332.1:p.Met126Lys |