Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931601A>C , CM000677.2:g.40931601A>C | GRCh38 |
| NC_000015.9:g.41223799A>C , CM000677.1:g.41223799A>C | GRCh37 |
| NC_000015.8:g.39011091A>C | NCBI36 |
| NG_046974.1:g.7269A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.493A>C MANE Select | ENSP00000249749.5:p.Thr165Pro | |
| ENST00000249749.6:c.493A>C | ENSP00000249749.5:p.Thr165Pro | |
| ENST00000559440.1:n.722A>C | ||
| NM_019074.3:c.493A>C | NP_061947.1:p.Thr165Pro | |
| NM_019074.4:c.493A>C MANE Select | NP_061947.1:p.Thr165Pro |