Linked Data
ClinVar Variation Id:
2778676
ClinVar RCV Id:
RCV003614265
gnomAD v4:
17-6425571-T-G
MyVariant Identifiers:
chr17:g.6328891T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425571T>G , CM000679.2:g.6425571T>G | GRCh38 |
| NC_000017.10:g.6328891T>G , CM000679.1:g.6328891T>G | GRCh37 |
| NC_000017.9:g.6269615T>G | NCBI36 |
| NG_008474.1:g.14629A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1044A>C MANE Select | ENSP00000370521.3:p.Thr348= | |
| ENST00000250087.9:c.855A>C | ENSP00000250087.5:p.Thr285= | |
| ENST00000381128.2:c.*916A>C | ENSP00000370520.2:n.*916A>C | |
| ENST00000381129.7:c.1044A>C | ENSP00000370521.3:p.Thr348= | |
| ENST00000570466.5:c.978A>C | ENSP00000461287.1:p.Thr326= | |
| ENST00000570584.5:c.251+8348A>C | ||
| ENST00000574506.5:c.1008A>C | ENSP00000458456.1:p.Thr336= | |
| ENST00000575265.5:c.*1015A>C | ENSP00000459673.1:n.*1015A>C | |
| ENST00000576307.5:c.864A>C | ENSP00000459522.1:p.Thr288= | |
| ENST00000576776.5:c.972A>C | ENSP00000460827.1:p.Thr324= | |
| ENST00000621374.4:c.*62A>C | ENSP00000481337.1:n.*62A>C | |
| NM_001033054.2:c.855A>C | NP_001028226.1:p.Thr285= | |
| NM_001033055.2:c.864A>C | NP_001028227.1:p.Thr288= | |
| NM_001285399.2:c.1008A>C | NP_001272328.1:p.Thr336= | |
| NM_001285400.2:c.978A>C | NP_001272329.1:p.Thr326= | |
| NM_001285401.2:c.972A>C | NP_001272330.1:p.Thr324= | |
| NM_001285402.1:c.927A>C | NP_001272331.1:p.Thr309= | |
| NM_014336.4:c.1044A>C | NP_055151.3:p.Thr348= | |
| NM_001033054.3:c.855A>C | NP_001028226.1:p.Thr285= | |
| NM_001033055.3:c.864A>C | NP_001028227.1:p.Thr288= | |
| NM_001285399.3:c.1008A>C | NP_001272328.1:p.Thr336= | |
| NM_001285400.3:c.978A>C | NP_001272329.1:p.Thr326= | |
| NM_001285401.3:c.972A>C | NP_001272330.1:p.Thr324= | |
| NM_001285402.2:c.927A>C | NP_001272331.1:p.Thr309= | |
| NM_001285403.3:c.*1015A>C | NP_001272332.1:n.*1015A>C | |
| NM_014336.5:c.1044A>C MANE Select | NP_055151.3:p.Thr348= | |
| NM_001285403.4:c.*1015A>C | NP_001272332.1:n.*1015A>C |