Linked Data
dbSNP Id:
rs377365970
gnomAD v2:
1-1956378-C-T
gnomAD v3:
1-2024939-C-T
gnomAD v4:
1-2024939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024939C>T , CM000663.2:g.2024939C>T | GRCh38 |
| NC_000001.10:g.1956378C>T , CM000663.1:g.1956378C>T | GRCh37 |
| NC_000001.9:g.1946238C>T | NCBI36 |
| NG_008168.1:g.10611C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.69-3C>T MANE Select | ENSP00000367848.4:n.69-3C>T | |
| ENST00000638411.1:c.69-3C>T | ENSP00000491632.1:n.69-3C>T | |
| ENST00000638604.1:n.133-3C>T | ||
| ENST00000638771.1:c.69-3C>T | ENSP00000492435.1:n.69-3C>T | |
| ENST00000639045.1:c.*55-3C>T | ENSP00000491997.1:n.*55-3C>T | |
| ENST00000639777.1:n.670C>T | ||
| ENST00000639935.1:n.106-3C>T | ||
| ENST00000640030.1:c.9-3C>T | ENSP00000491411.1:n.9-3C>T | |
| ENST00000640067.1:c.69-3C>T | ENSP00000491844.1:n.69-3C>T | |
| ENST00000640423.1:n.78-3C>T | ||
| ENST00000640949.1:c.69-3C>T | ENSP00000492500.1:n.69-3C>T | |
| ENST00000378585.5:c.69-3C>T | ENSP00000367848.4:n.69-3C>T | |
| NM_000815.4:c.69-3C>T | NP_000806.2:n.69-3C>T | |
| XM_011541194.1:c.108-3C>T | XP_011539496.1:n.108-3C>T | |
| XM_011541194.3:c.108-3C>T | XP_011539496.1:n.108-3C>T | |
| XM_017000936.1:c.771C>T | XP_016856425.1:p.Pro257= | |
| NM_000815.5:c.69-3C>T MANE Select | NP_000806.2:n.69-3C>T |