Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213547G>T , CM000667.2:g.1213547G>T | GRCh38 |
| NC_000005.9:g.1213662G>T , CM000667.1:g.1213662G>T | GRCh37 |
| NC_000005.8:g.1266662G>T | NCBI36 |
| NG_008282.1:g.16953G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.748G>T MANE Select | ENSP00000305302.10:p.Gly250Cys | |
| ENST00000304460.10:c.748G>T | ENSP00000305302.10:p.Gly250Cys | |
| ENST00000515652.5:c.656G>T | ENSP00000425701.1:p.Trp219Leu | |
| NM_001003841.2:c.748G>T | NP_001003841.1:p.Gly250Cys | |
| NM_001003841.3:c.748G>T MANE Select | NP_001003841.1:p.Gly250Cys |