Linked Data
dbSNP Id:
rs780489942
ExAC:
1:985752 C / T
gnomAD v2:
1-985752-C-T
gnomAD v3:
1-1050372-C-T
gnomAD v4:
1-1050372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1050372C>T , CM000663.2:g.1050372C>T | GRCh38 |
| NC_000001.10:g.985752C>T , CM000663.1:g.985752C>T | GRCh37 |
| NC_000001.9:g.975615C>T | NCBI36 |
| NG_016346.1:g.35250C>T , LRG_198:g.35250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.4976+43C>T MANE Select | ENSP00000368678.2:n.4976+43C>T | |
| ENST00000651234.1:c.4661+43C>T | ENSP00000499046.1:n.4661+43C>T | |
| ENST00000652369.1:c.4661+43C>T | ENSP00000498543.1:n.4661+43C>T | |
| ENST00000379370.6:c.4976+43C>T | ENSP00000368678.2:n.4976+43C>T | |
| ENST00000620552.4:c.4562+43C>T | ENSP00000484607.1:n.4562+43C>T | |
| NM_001305275.1:c.4976+43C>T | NP_001292204.1:n.4976+43C>T | |
| NM_198576.3:c.4976+43C>T | NP_940978.2:n.4976+43C>T | |
| XM_005244749.2:c.4976+43C>T | XP_005244806.1:n.4976+43C>T | |
| XM_006710635.2:c.4976+43C>T | XP_006710698.1:n.4976+43C>T | |
| XM_011541429.1:c.4976+43C>T | XP_011539731.1:n.4976+43C>T | |
| XM_011541430.1:c.4103+43C>T | XP_011539732.1:n.4103+43C>T | |
| XM_011541431.1:c.3242+43C>T | XP_011539733.1:n.3242+43C>T | |
| XR_946650.1:n.5043+43C>T | ||
| NM_001364727.1:c.4661+43C>T | NP_001351656.1:n.4661+43C>T | |
| XM_005244749.3:c.4976+43C>T | XP_005244806.1:n.4976+43C>T | |
| XM_011541429.2:c.4976+43C>T | XP_011539731.1:n.4976+43C>T | |
| XR_946650.2:n.5047+43C>T | ||
| NM_001305275.2:c.4976+43C>T | NP_001292204.1:n.4976+43C>T | |
| NM_198576.4:c.4976+43C>T MANE Select | NP_940978.2:n.4976+43C>T | |
| NM_001364727.2:c.4661+43C>T | NP_001351656.1:n.4661+43C>T |