Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747264C>T , CM000663.2:g.196747264C>T | GRCh38 |
| NC_000001.10:g.196716394C>T , CM000663.1:g.196716394C>T | GRCh37 |
| NC_000001.9:g.194983017C>T | NCBI36 |
| NG_007259.1:g.100254C>T , LRG_47:g.100254C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367429.9:c.3647C>T MANE Select | ENSP00000356399.4:p.Thr1216Ile | |
| ENST00000367429.8:c.3647C>T | ENSP00000356399.4:p.Thr1216Ile | |
| NM_000186.3:c.3647C>T , LRG_47t1:c.3647C>T | NP_000177.2:p.Thr1216Ile | |
| NM_000186.4:c.3647C>T MANE Select | NP_000177.2:p.Thr1216Ile |