Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37727831C>T , CM000685.2:g.37727831C>T | GRCh38 |
| NC_000023.10:g.37587084C>T , CM000685.1:g.37587084C>T | GRCh37 |
| NC_000023.9:g.37472023C>T | NCBI36 |
| NG_007473.1:g.46972C>T | |
| NG_007473.3:g.46952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378616.5:c.704C>T MANE Select | ENSP00000367879.3:p.Thr235Ile | |
| ENST00000378616.3:c.704C>T | ENSP00000367879.3:p.Thr235Ile | |
| ENST00000465127.1:c.171+301831C>T | ENSP00000417050.1:n.171+301831C>T | |
| NM_021083.2:c.704C>T | NP_066569.1:p.Thr235Ile | |
| NM_021083.4:c.704C>T MANE Select | NP_066569.1:p.Thr235Ile |