Linked Data
dbSNP Id:
rs758306634
ExAC:
16:223373 C / T
gnomAD v2:
16-223373-C-T
gnomAD v4:
16-173374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173374C>T , CM000678.2:g.173374C>T | GRCh38 |
| NC_000016.9:g.223373C>T , CM000678.1:g.223373C>T | GRCh37 |
| NC_000016.8:g.163373C>T | NCBI36 |
| NG_000006.1:g.34237C>T | |
| NG_059186.1:g.1724C>T | |
| NG_059271.1:g.5528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+45C>T MANE Select | ENSP00000251595.6:n.300+45C>T | |
| ENST00000251595.10:c.300+45C>T | ENSP00000251595.6:n.300+45C>T | |
| ENST00000397806.1:c.204+45C>T | ENSP00000380908.1:n.204+45C>T | |
| ENST00000482565.1:n.436+45C>T | ||
| ENST00000484216.1:n.314C>T | ||
| NM_000517.4:c.300+45C>T | NP_000508.1:n.300+45C>T | |
| NM_000517.6:c.300+45C>T MANE Select | NP_000508.1:n.300+45C>T |