Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672050C>A , CM000685.2:g.18672050C>A | GRCh38 |
| NC_000023.10:g.18690170C>A , CM000685.1:g.18690170C>A | GRCh37 |
| NC_000023.9:g.18600091C>A | NCBI36 |
| NG_008659.3:g.10399G>T , LRG_702:g.10399G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.19G>T MANE Select | ENSP00000369320.3:p.Gly7Cys | |
| ENST00000379984.3:c.19G>T | ENSP00000369320.3:p.Gly7Cys | |
| NM_000330.3:c.19G>T , LRG_702t1:c.19G>T | NP_000321.1:p.Gly7Cys | |
| NM_000330.4:c.19G>T MANE Select | NP_000321.1:p.Gly7Cys |