Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145888C>T , CM000668.2:g.24145888C>T | GRCh38 |
| NC_000006.11:g.24146116C>T , CM000668.1:g.24146116C>T | GRCh37 |
| NC_000006.10:g.24254095C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.530C>T MANE Select | ENSP00000367752.4:p.Thr177Ile | |
| ENST00000378478.5:c.530C>T | ENSP00000367739.2:p.Thr177Ile | |
| ENST00000378491.8:c.530C>T | ENSP00000367752.4:p.Thr177Ile | |
| ENST00000468195.2:n.257-8883C>T | ||
| NM_080723.4:c.530C>T | NP_542454.3:p.Thr177Ile | |
| NM_080723.5:c.530C>T MANE Select | NP_542454.3:p.Thr177Ile |