Linked Data
dbSNP Id:
rs1030916593
gnomAD v2:
3-52327227-T-G
gnomAD v3:
3-52293211-T-G
gnomAD v4:
3-52293211-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293211T>G , CM000665.2:g.52293211T>G | GRCh38 |
| NC_000003.11:g.52327227T>G , CM000665.1:g.52327227T>G | GRCh37 |
| NC_000003.10:g.52302267T>G | NCBI36 |
| NG_023246.1:g.10392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.*85T>G MANE Select | ENSP00000389175.2:n.*85T>G | |
| ENST00000436784.6:c.*85T>G | ENSP00000389175.2:n.*85T>G | |
| ENST00000471180.5:c.*58+19T>G | ENSP00000417526.1:n.*58+19T>G | |
| ENST00000473032.5:c.*58+19T>G | ENSP00000418951.1:n.*58+19T>G | |
| ENST00000486393.5:c.*1020T>G | ENSP00000419868.1:n.*1020T>G | |
| ENST00000489173.1:n.1914+37T>G | ||
| NM_145262.3:c.*85T>G | NP_660305.2:n.*85T>G | |
| NR_026699.1:n.1755T>G | ||
| NR_026700.1:n.842+19T>G | ||
| NR_026701.1:n.1734+19T>G | ||
| NR_026702.1:n.772+19T>G | ||
| XM_005264878.2:c.*776T>G | XP_005264935.1:n.*776T>G | |
| XR_245095.2:n.2889+19T>G | ||
| XM_017005730.1:c.*85T>G | XP_016861219.1:n.*85T>G | |
| XM_024453351.1:c.*85T>G | XP_024309119.1:n.*85T>G | |
| XM_024453352.1:c.*776T>G | XP_024309120.1:n.*776T>G | |
| XR_001740022.2:n.3540+19T>G | ||
| XR_001740023.2:n.3064+19T>G | ||
| XR_245095.4:n.2890+19T>G | ||
| NM_145262.4:c.*85T>G MANE Select | NP_660305.2:n.*85T>G | |
| NR_026699.2:n.1747T>G | ||
| NR_026700.2:n.834+19T>G | ||
| NR_026701.2:n.1726+19T>G | ||
| NR_026702.2:n.764+19T>G | ||
| NM_001144951.2:c.*776T>G | NP_001138423.1:n.*776T>G |