Linked Data
dbSNP Id:
rs774736002
ExAC:
17:6328807 C / CG
gnomAD v2:
17-6328807-C-CG
gnomAD v3:
17-6425487-C-CG
gnomAD v4:
17-6425487-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425492dup , CM000679.2:g.6425492dup | GRCh38 |
| NC_000017.10:g.6328812dup , CM000679.1:g.6328812dup | GRCh37 |
| NC_000017.9:g.6269536dup | NCBI36 |
| NG_008474.1:g.14712dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1127dup MANE Select | ENSP00000370521.3:p.Ser377ValfsTer? | |
| ENST00000250087.9:c.938dup | ENSP00000250087.5:p.Ser314ValfsTer? | |
| ENST00000381128.2:c.*999dup | ENSP00000370520.2:n.*999dup | |
| ENST00000381129.7:c.1127dup | ENSP00000370521.3:p.Ser377ValfsTer? | |
| ENST00000570466.5:c.1061dup | ENSP00000461287.1:p.Ser355ValfsTer? | |
| ENST00000570584.5:c.251+8431dup | ||
| ENST00000574506.5:c.1091dup | ENSP00000458456.1:p.Ser365ValfsTer? | |
| ENST00000575265.5:c.*1098dup | ENSP00000459673.1:n.*1098dup | |
| ENST00000576307.5:c.947dup | ENSP00000459522.1:p.Ser317ValfsTer? | |
| ENST00000576776.5:c.1055dup | ENSP00000460827.1:p.Ser353ValfsTer? | |
| ENST00000621374.4:c.*145dup | ENSP00000481337.1:n.*145dup | |
| NM_001033054.2:c.938dup | NP_001028226.1:p.Ser314ValfsTer? | |
| NM_001033055.2:c.947dup | NP_001028227.1:p.Ser317ValfsTer? | |
| NM_001285399.2:c.1091dup | NP_001272328.1:p.Ser365ValfsTer? | |
| NM_001285400.2:c.1061dup | NP_001272329.1:p.Ser355ValfsTer? | |
| NM_001285401.2:c.1055dup | NP_001272330.1:p.Ser353ValfsTer? | |
| NM_001285402.1:c.1010dup | NP_001272331.1:p.Ser338ValfsTer? | |
| NM_014336.4:c.1127dup | NP_055151.3:p.Ser377ValfsTer? | |
| NM_001033054.3:c.938dup | NP_001028226.1:p.Ser314ValfsTer? | |
| NM_001033055.3:c.947dup | NP_001028227.1:p.Ser317ValfsTer? | |
| NM_001285399.3:c.1091dup | NP_001272328.1:p.Ser365ValfsTer? | |
| NM_001285400.3:c.1061dup | NP_001272329.1:p.Ser355ValfsTer? | |
| NM_001285401.3:c.1055dup | NP_001272330.1:p.Ser353ValfsTer? | |
| NM_001285402.2:c.1010dup | NP_001272331.1:p.Ser338ValfsTer? | |
| NM_001285403.3:c.*1098dup | NP_001272332.1:n.*1098dup | |
| NM_014336.5:c.1127dup MANE Select | NP_055151.3:p.Ser377ValfsTer? | |
| NM_001285403.4:c.*1098dup | NP_001272332.1:n.*1098dup |