Linked Data
ClinVar Variation Id:
323959
ClinVar RCV Id:
RCV000288680
dbSNP Id:
rs1053754
gnomAD v2:
17-4801288-A-C
gnomAD v3:
17-4897993-A-C
gnomAD v4:
17-4897993-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4897993A>C , CM000679.2:g.4897993A>C | GRCh38 |
| NC_000017.10:g.4801288A>C , CM000679.1:g.4801288A>C | GRCh37 |
| NG_008029.2:g.10083T>G | |
| NG_028005.1:g.69654A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355280.11:c.*706A>C (MINK1) MANE Select | ENSP00000347427.6:n.*706A>C | |
| ENST00000649488.2:c.*743T>G (CHRNE) MANE Select | ENSP00000497829.1:n.*743T>G | |
| ENST00000652550.1:n.1951T>G (CHRNE) | ||
| ENST00000293780.4:c.*743T>G (CHRNE) | ENSP00000293780.4:n.*743T>G | |
| ENST00000347992.11:c.*706A>C (MINK1) | ENSP00000269296.7:n.*706A>C | |
| ENST00000355280.10:c.*706A>C (MINK1) | ENSP00000347427.6:n.*706A>C | |
| ENST00000571207.5:c.4501A>C (MINK1) | ||
| ENST00000574453.5:c.*4374A>C (MINK1) | ENSP00000461500.1:n.*4374A>C | |
| ENST00000574871.1:n.3083A>C (MINK1) | ||
| NM_000080.3:c.*743T>G (CHRNE) | NP_000071.1:n.*743T>G | |
| NM_001024937.3:c.*706A>C (MINK1) | NP_001020108.1:n.*706A>C | |
| NM_015716.4:c.*706A>C (MINK1) | NP_056531.1:n.*706A>C | |
| NM_153827.4:c.*706A>C (MINK1) | NP_722549.2:n.*706A>C | |
| NM_170663.4:c.*706A>C (MINK1) | NP_733763.1:n.*706A>C | |
| XM_005256664.2:c.*706A>C (MINK1) | XP_005256721.1:n.*706A>C | |
| XM_005256665.2:c.*706A>C (MINK1) | XP_005256722.1:n.*706A>C | |
| XM_006721530.2:c.*706A>C (MINK1) | XP_006721593.1:n.*706A>C | |
| XM_006721531.2:c.*706A>C (MINK1) | XP_006721594.1:n.*706A>C | |
| XM_006721532.2:c.*706A>C (MINK1) | XP_006721595.1:n.*706A>C | |
| XM_006721533.2:c.*706A>C (MINK1) | XP_006721596.1:n.*706A>C | |
| XM_006721534.2:c.*706A>C (MINK1) | XP_006721597.1:n.*706A>C | |
| XM_006721535.2:c.*706A>C (MINK1) | XP_006721598.1:n.*706A>C | |
| XM_006721536.2:c.*706A>C (MINK1) | XP_006721599.1:n.*706A>C | |
| XM_006721538.2:c.*706A>C (MINK1) | XP_006721601.1:n.*706A>C | |
| XM_011523905.1:c.*706A>C (MINK1) | XP_011522207.1:n.*706A>C | |
| XM_011523906.1:c.*706A>C (MINK1) | XP_011522208.1:n.*706A>C | |
| XM_011523907.1:c.*706A>C (MINK1) | XP_011522209.1:n.*706A>C | |
| XM_011523908.1:c.*706A>C (MINK1) | XP_011522210.1:n.*706A>C | |
| NM_000080.4:c.*743T>G (CHRNE) MANE Select | NP_000071.1:n.*743T>G | |
| NM_001321236.1:c.*706A>C (MINK1) | NP_001308165.1:n.*706A>C | |
| XM_017024704.1:c.*706A>C (MINK1) | XP_016880193.1:n.*706A>C | |
| XM_017024705.1:c.*706A>C (MINK1) | XP_016880194.1:n.*706A>C | |
| XM_017024706.1:c.*706A>C (MINK1) | XP_016880195.1:n.*706A>C | |
| XM_017024707.2:c.*706A>C (MINK1) | XP_016880196.1:n.*706A>C | |
| XM_017024708.1:c.*706A>C (MINK1) | XP_016880197.1:n.*706A>C | |
| XR_001752522.2:n.5050A>C (MINK1) | ||
| NM_153827.5:c.*706A>C (MINK1) MANE Select | NP_722549.2:n.*706A>C | |
| NM_001024937.4:c.*706A>C (MINK1) | NP_001020108.1:n.*706A>C | |
| NM_001321236.2:c.*706A>C (MINK1) | NP_001308165.1:n.*706A>C | |
| NM_015716.5:c.*706A>C (MINK1) | NP_056531.1:n.*706A>C | |
| NM_170663.5:c.*706A>C (MINK1) | NP_733763.1:n.*706A>C |