Linked Data
ClinVar Variation Id:
6774
dbSNP Id:
rs61750435
ExAC:
1:2338230 C / CT
gnomAD v2:
1-2338230-C-CT
gnomAD v3:
1-2406791-C-CT
gnomAD v4:
1-2406791-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406792dup , CM000663.2:g.2406792dup | GRCh38 |
| NC_000001.10:g.2338231dup , CM000663.1:g.2338231dup | GRCh37 |
| NC_000001.9:g.2328091dup | NCBI36 |
| NG_008342.1:g.10780dup | |
| NG_016128.1:g.20018dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288774.8:c.764dup | ENSP00000288774.3:p.Leu256AlafsTer? | |
| ENST00000447513.7:c.704dup MANE Select | ENSP00000407922.2:p.Leu236AlafsTer? | |
| ENST00000650293.1:c.658dup | ||
| ENST00000288774.7:c.764dup | ENSP00000288774.3:p.Leu256AlafsTer? | |
| ENST00000447513.6:c.704dup | ENSP00000407922.2:p.Leu236AlafsTer? | |
| ENST00000507596.5:c.704dup | ENSP00000424291.1:p.Leu236AlafsTer? | |
| ENST00000510434.1:c.*70dup | ENSP00000423051.1:n.*70dup | |
| NM_002617.3:c.704dup | NP_002608.1:p.Leu236AlafsTer? | |
| NM_153818.1:c.764dup | NP_722540.1:p.Leu256AlafsTer? | |
| XM_011541573.1:c.761dup | XP_011539875.1:p.Leu255AlafsTer? | |
| XM_011541574.1:c.329dup | XP_011539876.1:p.Leu111AlafsTer? | |
| XM_011541575.1:c.329dup | XP_011539877.1:p.Leu111AlafsTer? | |
| XR_946666.1:n.820dup | ||
| XR_946666.2:n.769dup | ||
| NM_001374425.1:c.761dup | NP_001361354.1:p.Leu255AlafsTer? | |
| NM_001374426.1:c.329dup | NP_001361355.1:p.Leu111AlafsTer? | |
| NM_001374427.1:c.272dup | NP_001361356.1:p.Leu92AlafsTer? | |
| NM_002617.4:c.704dup MANE Select | NP_002608.1:p.Leu236AlafsTer? | |
| NM_153818.2:c.764dup | NP_722540.1:p.Leu256AlafsTer? | |
| NR_164636.1:n.819dup |