Linked Data
dbSNP Id:
rs374672923
ExAC:
6:132172233 C / T
gnomAD v2:
6-132172233-C-T
gnomAD v3:
6-131851093-C-T
gnomAD v4:
6-131851093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851093C>T , CM000668.2:g.131851093C>T | GRCh38 |
| NC_000006.11:g.132172233C>T , CM000668.1:g.132172233C>T | GRCh37 |
| NC_000006.10:g.132213926C>T | NCBI36 |
| NG_008206.1:g.48078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.431-49C>T MANE Select | ENSP00000498074.1:n.431-49C>T | |
| ENST00000650147.1:c.109-49C>T | ||
| ENST00000650437.1:c.108+987C>T | ||
| ENST00000360971.6:c.431-49C>T | ENSP00000354238.2:n.431-49C>T | |
| ENST00000486853.1:n.451-49C>T | ||
| ENST00000513998.5:c.431-49C>T | ENSP00000422424.1:n.431-49C>T | |
| NM_006208.2:c.431-49C>T | NP_006199.2:n.431-49C>T | |
| NM_006208.3:c.431-49C>T MANE Select | NP_006199.2:n.431-49C>T |