Linked Data
dbSNP Id:
rs770598939
ExAC:
6:24145856 C / T
gnomAD v2:
6-24145856-C-T
gnomAD v4:
6-24145628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145628C>T , CM000668.2:g.24145628C>T | GRCh38 |
| NC_000006.11:g.24145856C>T , CM000668.1:g.24145856C>T | GRCh37 |
| NC_000006.10:g.24253835C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.270C>T MANE Select | ENSP00000367752.4:p.Ile90= | |
| ENST00000378477.2:c.270C>T | ENSP00000367738.2:p.Ile90= | |
| ENST00000378478.5:c.270C>T | ENSP00000367739.2:p.Ile90= | |
| ENST00000378491.8:c.270C>T | ENSP00000367752.4:p.Ile90= | |
| ENST00000468195.2:n.257-9143C>T | ||
| NM_080723.4:c.270C>T | NP_542454.3:p.Ile90= | |
| NM_080723.5:c.270C>T MANE Select | NP_542454.3:p.Ile90= |