Linked Data
ClinVar Variation Id:
1276115
ClinVar RCV Id:
RCV001694440
dbSNP Id:
rs10937410
gnomAD v2:
3-189449218-C-T
gnomAD v3:
3-189731429-C-T
gnomAD v4:
3-189731429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189731429C>T , CM000665.2:g.189731429C>T | GRCh38 |
| NC_000003.11:g.189449218C>T , CM000665.1:g.189449218C>T | GRCh37 |
| NC_000003.10:g.190931912C>T | NCBI36 |
| NG_007550.1:g.105003C>T | |
| NG_007550.2:g.105003C>T | |
| NG_007550.3:g.139684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.63-6311C>T MANE Select | ENSP00000264731.3:n.63-6311C>T | |
| ENST00000264731.7:c.63-6311C>T | ENSP00000264731.3:n.63-6311C>T | |
| ENST00000320472.9:c.63-6311C>T | ENSP00000317510.5:n.63-6311C>T | |
| ENST00000392460.7:c.63-6311C>T | ENSP00000376253.3:n.63-6311C>T | |
| ENST00000418709.6:c.63-6311C>T | ENSP00000407144.2:n.63-6311C>T | |
| ENST00000440651.6:c.63-6311C>T | ENSP00000394337.2:n.63-6311C>T | |
| ENST00000486398.1:n.163-6311C>T | ||
| NM_001114978.1:c.63-6311C>T | NP_001108450.1:n.63-6311C>T | |
| NM_001114979.1:c.63-6311C>T | NP_001108451.1:n.63-6311C>T | |
| NM_003722.4:c.63-6311C>T | NP_003713.3:n.63-6311C>T | |
| XM_005247843.2:c.63-6311C>T | XP_005247900.1:n.63-6311C>T | |
| XM_005247844.3:c.12-6311C>T | XP_005247901.1:n.12-6311C>T | |
| XM_005247846.2:c.63-6311C>T | XP_005247903.1:n.63-6311C>T | |
| XM_011513251.1:c.60-6311C>T | XP_011511553.1:n.60-6311C>T | |
| XM_011513252.1:c.57-6311C>T | XP_011511554.1:n.57-6311C>T | |
| XM_011513253.1:c.24-6311C>T | XP_011511555.1:n.24-6311C>T | |
| NM_001329144.1:c.63-6311C>T | NP_001316073.1:n.63-6311C>T | |
| NM_001329148.1:c.63-6311C>T | NP_001316077.1:n.63-6311C>T | |
| NM_001329964.1:c.57-6311C>T | NP_001316893.1:n.57-6311C>T | |
| NM_003722.5:c.63-6311C>T MANE Select | NP_003713.3:n.63-6311C>T | |
| NM_001114978.2:c.63-6311C>T | NP_001108450.1:n.63-6311C>T | |
| NM_001114979.2:c.63-6311C>T | NP_001108451.1:n.63-6311C>T | |
| NM_001329144.2:c.63-6311C>T | NP_001316073.1:n.63-6311C>T | |
| NM_001329148.2:c.63-6311C>T | NP_001316077.1:n.63-6311C>T | |
| NM_001329964.2:c.57-6311C>T | NP_001316893.1:n.57-6311C>T |