Linked Data
ClinVar Variation Id:
366751
dbSNP Id:
rs556766
ExAC:
9:35089048 A / C
gnomAD v2:
9-35089048-A-C
gnomAD v3:
9-35089051-A-C
gnomAD v4:
9-35089051-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35089051A>C , CM000671.2:g.35089051A>C | GRCh38 |
| NC_000009.11:g.35089048A>C , CM000671.1:g.35089048A>C | GRCh37 |
| NC_000009.10:g.35079048A>C | NCBI36 |
| NG_031990.1:g.12551T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361778.7:c.*41T>G | ENSP00000354678.2:n.*41T>G | |
| ENST00000700254.1:c.*41T>G | ENSP00000514892.1:n.*41T>G | |
| ENST00000700255.1:c.*2491T>G | ENSP00000514893.1:n.*2491T>G | |
| ENST00000700256.1:n.4143T>G | ||
| ENST00000700257.1:c.*41T>G | ENSP00000514894.1:n.*41T>G | |
| ENST00000700258.1:n.1302T>G | ||
| ENST00000700259.1:c.*874T>G | ENSP00000514895.1:n.*874T>G | |
| ENST00000700260.1:c.1880T>G | ENSP00000514896.1:n.1880T>G | |
| ENST00000700261.1:c.*41T>G | ENSP00000514897.1:n.*41T>G | |
| ENST00000700262.1:c.*242T>G | ENSP00000514898.1:n.*242T>G | |
| ENST00000700263.1:c.3265T>G | ENSP00000514899.1:n.3265T>G | |
| ENST00000700264.1:c.*242T>G | ENSP00000514900.1:n.*242T>G | |
| ENST00000378617.4:c.*41T>G MANE Select | ENSP00000367880.3:n.*41T>G | |
| ENST00000298004.9:c.*41T>G | ENSP00000298004.5:n.*41T>G | |
| ENST00000361778.6:c.*41T>G | ENSP00000354678.2:n.*41T>G | |
| ENST00000378617.3:c.*41T>G | ENSP00000367880.3:n.*41T>G | |
| ENST00000465745.6:n.5089T>G | ||
| ENST00000474436.1:n.6294T>G | ||
| ENST00000491687.1:n.446T>G | ||
| NM_001201484.1:c.*41T>G | NP_001188413.1:n.*41T>G | |
| NM_032634.3:c.*41T>G | NP_116023.2:n.*41T>G | |
| NM_152850.3:c.*41T>G | NP_690577.2:n.*41T>G | |
| XM_005251619.2:c.*41T>G | XP_005251676.1:n.*41T>G | |
| XM_011518056.1:c.*41T>G | XP_011516358.1:n.*41T>G | |
| XR_242515.1:n.3336T>G | ||
| XM_005251619.3:c.*41T>G | XP_005251676.1:n.*41T>G | |
| XM_017015222.2:c.*41T>G | XP_016870711.1:n.*41T>G | |
| XM_017015223.1:c.*41T>G | XP_016870712.1:n.*41T>G | |
| XM_017015224.1:c.*41T>G | XP_016870713.1:n.*41T>G | |
| XR_001746390.1:n.3738T>G | ||
| XR_001746391.2:n.2085T>G | ||
| XR_242515.3:n.3336T>G | ||
| NM_032634.4:c.*41T>G MANE Select | NP_116023.2:n.*41T>G | |
| NM_001201484.2:c.*41T>G | NP_001188413.1:n.*41T>G | |
| NM_152850.4:c.*41T>G | NP_690577.2:n.*41T>G |