Linked Data
dbSNP Id:
rs755313388
ExAC:
1:1956372 C / T
gnomAD v2:
1-1956372-C-T
gnomAD v4:
1-2024933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024933C>T , CM000663.2:g.2024933C>T | GRCh38 |
| NC_000001.10:g.1956372C>T , CM000663.1:g.1956372C>T | GRCh37 |
| NC_000001.9:g.1946232C>T | NCBI36 |
| NG_008168.1:g.10605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.69-9C>T MANE Select | ENSP00000367848.4:n.69-9C>T | |
| ENST00000638411.1:c.69-9C>T | ENSP00000491632.1:n.69-9C>T | |
| ENST00000638604.1:n.133-9C>T | ||
| ENST00000638771.1:c.69-9C>T | ENSP00000492435.1:n.69-9C>T | |
| ENST00000639045.1:c.*55-9C>T | ENSP00000491997.1:n.*55-9C>T | |
| ENST00000639777.1:n.664C>T | ||
| ENST00000639935.1:n.106-9C>T | ||
| ENST00000640030.1:c.9-9C>T | ENSP00000491411.1:n.9-9C>T | |
| ENST00000640067.1:c.69-9C>T | ENSP00000491844.1:n.69-9C>T | |
| ENST00000640423.1:n.78-9C>T | ||
| ENST00000640949.1:c.69-9C>T | ENSP00000492500.1:n.69-9C>T | |
| ENST00000378585.5:c.69-9C>T | ENSP00000367848.4:n.69-9C>T | |
| NM_000815.4:c.69-9C>T | NP_000806.2:n.69-9C>T | |
| XM_011541194.1:c.108-9C>T | XP_011539496.1:n.108-9C>T | |
| XM_011541194.3:c.108-9C>T | XP_011539496.1:n.108-9C>T | |
| XM_017000936.1:c.765C>T | XP_016856425.1:p.Cys255= | |
| NM_000815.5:c.69-9C>T MANE Select | NP_000806.2:n.69-9C>T |