Linked Data
dbSNP Id:
rs572117989
ExAC:
3:52326771 C / A
gnomAD v2:
3-52326771-C-A
gnomAD v3:
3-52292755-C-A
gnomAD v4:
3-52292755-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292755C>A , CM000665.2:g.52292755C>A | GRCh38 |
| NC_000003.11:g.52326771C>A , CM000665.1:g.52326771C>A | GRCh37 |
| NC_000003.10:g.52301811C>A | NCBI36 |
| NG_023246.1:g.9936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1201C>A MANE Select | ENSP00000389175.2:p.Pro401Thr | |
| ENST00000305690.12:c.*320C>A | ENSP00000301965.9:n.*320C>A | |
| ENST00000436784.6:c.1201C>A | ENSP00000389175.2:p.Pro401Thr | |
| ENST00000461183.5:c.763+186C>A | ENSP00000417264.1:n.763+186C>A | |
| ENST00000471180.5:c.634+186C>A | ENSP00000417526.1:n.634+186C>A | |
| ENST00000473032.5:c.530-291C>A | ENSP00000418951.1:n.530-291C>A | |
| ENST00000477382.1:c.*320C>A | ENSP00000419008.1:n.*320C>A | |
| ENST00000486393.5:c.*564C>A | ENSP00000419868.1:n.*564C>A | |
| ENST00000489173.1:n.1495C>A | ||
| NM_001144951.1:c.*320C>A | NP_001138423.1:n.*320C>A | |
| NM_145262.3:c.1201C>A | NP_660305.2:p.Pro401Thr | |
| NR_026699.1:n.1299C>A | ||
| NR_026700.1:n.695+186C>A | ||
| NR_026701.1:n.1297C>A | ||
| NR_026702.1:n.626-291C>A | ||
| XM_005264878.2:c.*320C>A | XP_005264935.1:n.*320C>A | |
| XR_245095.2:n.2742+186C>A | ||
| XM_017005730.1:c.820C>A | XP_016861219.1:p.Pro274Thr | |
| XM_024453351.1:c.1201C>A | XP_024309119.1:p.Pro401Thr | |
| XM_024453352.1:c.*320C>A | XP_024309120.1:n.*320C>A | |
| XR_001740022.2:n.3103C>A | ||
| XR_001740023.2:n.2917+186C>A | ||
| XR_245095.4:n.2743+186C>A | ||
| NM_145262.4:c.1201C>A MANE Select | NP_660305.2:p.Pro401Thr | |
| NR_026699.2:n.1291C>A | ||
| NR_026700.2:n.687+186C>A | ||
| NR_026701.2:n.1289C>A | ||
| NR_026702.2:n.618-291C>A | ||
| NM_001144951.2:c.*320C>A | NP_001138423.1:n.*320C>A |