Linked Data
dbSNP Id:
rs201150780
ExAC:
6:24146131 C / T
gnomAD v2:
6-24146131-C-T
gnomAD v3:
6-24145903-C-T
gnomAD v4:
6-24145903-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145903C>T , CM000668.2:g.24145903C>T | GRCh38 |
| NC_000006.11:g.24146131C>T , CM000668.1:g.24146131C>T | GRCh37 |
| NC_000006.10:g.24254110C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.545C>T MANE Select | ENSP00000367752.4:p.Thr182Ile | |
| ENST00000378478.5:c.545C>T | ENSP00000367739.2:p.Thr182Ile | |
| ENST00000378491.8:c.545C>T | ENSP00000367752.4:p.Thr182Ile | |
| ENST00000468195.2:n.257-8868C>T | ||
| NM_080723.4:c.545C>T | NP_542454.3:p.Thr182Ile | |
| NM_080723.5:c.545C>T MANE Select | NP_542454.3:p.Thr182Ile |