Linked Data
dbSNP Id:
rs754160389
ExAC:
1:1956367 C / G
gnomAD v2:
1-1956367-C-G
gnomAD v4:
1-2024928-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024928C>G , CM000663.2:g.2024928C>G | GRCh38 |
| NC_000001.10:g.1956367C>G , CM000663.1:g.1956367C>G | GRCh37 |
| NC_000001.9:g.1946227C>G | NCBI36 |
| NG_008168.1:g.10600C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.69-14C>G MANE Select | ENSP00000367848.4:n.69-14C>G | |
| ENST00000638411.1:c.69-14C>G | ENSP00000491632.1:n.69-14C>G | |
| ENST00000638604.1:n.133-14C>G | ||
| ENST00000638771.1:c.69-14C>G | ENSP00000492435.1:n.69-14C>G | |
| ENST00000639045.1:c.*55-14C>G | ENSP00000491997.1:n.*55-14C>G | |
| ENST00000639777.1:n.659C>G | ||
| ENST00000639935.1:n.106-14C>G | ||
| ENST00000640030.1:c.9-14C>G | ENSP00000491411.1:n.9-14C>G | |
| ENST00000640067.1:c.69-14C>G | ENSP00000491844.1:n.69-14C>G | |
| ENST00000640423.1:n.78-14C>G | ||
| ENST00000640949.1:c.69-14C>G | ENSP00000492500.1:n.69-14C>G | |
| ENST00000378585.5:c.69-14C>G | ENSP00000367848.4:n.69-14C>G | |
| NM_000815.4:c.69-14C>G | NP_000806.2:n.69-14C>G | |
| XM_011541194.1:c.108-14C>G | XP_011539496.1:n.108-14C>G | |
| XM_011541194.3:c.108-14C>G | XP_011539496.1:n.108-14C>G | |
| XM_017000936.1:c.760C>G | XP_016856425.1:p.Leu254Val | |
| NM_000815.5:c.69-14C>G MANE Select | NP_000806.2:n.69-14C>G |