Linked Data
dbSNP Id:
rs921041043
gnomAD v2:
16-78133381-C-T
gnomAD v3:
16-78099484-C-T
gnomAD v4:
16-78099484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78099484C>T , CM000678.2:g.78099484C>T | GRCh38 |
| NC_000016.9:g.78133381C>T , CM000678.1:g.78133381C>T | GRCh37 |
| NC_000016.8:g.76690882C>T | NCBI36 |
| NG_011698.1:g.4831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.-295C>T | ENSP00000485925.2:n.-295C>T | |
| ENST00000682609.1:n.33C>T | ||
| ENST00000683286.1:n.33C>T | ||
| ENST00000683929.1:c.-295C>T | ENSP00000507689.1:n.-295C>T | |
| ENST00000684070.1:n.35C>T | ||
| ENST00000684381.1:n.33C>T | ||
| ENST00000684452.1:n.33C>T | ||
| ENST00000684632.1:n.85C>T | ||
| ENST00000566780.5:c.-295C>T | ENSP00000457230.1:n.-295C>T | |
| ENST00000627394.2:c.-295C>T | ENSP00000485925.1:n.-295C>T | |
| NM_001291997.1:c.-569C>T | NP_001278926.1:n.-569C>T | |
| NM_016373.3:c.-295C>T | NP_057457.1:n.-295C>T | |
| NM_130791.3:c.-295C>T | NP_570607.1:n.-295C>T | |
| NR_120435.1:n.72C>T | ||
| NR_120436.1:n.72C>T |