Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816863A>T , CM000681.2:g.17816863A>T | GRCh38 |
| NC_000019.9:g.17927672A>T , CM000681.1:g.17927672A>T | GRCh37 |
| NC_000019.8:g.17788672A>T | NCBI36 |
| NG_012092.1:g.9649T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317306.8:c.387T>A MANE Select | ENSP00000321724.6:p.Cys129Ter | |
| ENST00000317306.7:c.387T>A | ENSP00000321724.6:p.Cys129Ter | |
| ENST00000379695.5:c.*8T>A | ENSP00000369017.4:n.*8T>A | |
| ENST00000598577.1:c.408T>A | ||
| NM_001265587.1:c.*8T>A | NP_001252516.1:n.*8T>A | |
| NM_005543.3:c.387T>A | NP_005534.2:p.Cys129Ter | |
| NM_001265587.2:c.*8T>A | NP_001252516.1:n.*8T>A | |
| NM_005543.4:c.387T>A MANE Select | NP_005534.2:p.Cys129Ter |