Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231707T>G , CM000667.2:g.55231707T>G | GRCh38 |
| NC_000005.9:g.54527535T>G , CM000667.1:g.54527535T>G | GRCh37 |
| NC_000005.8:g.54563292T>G | NCBI36 |
| NG_034201.1:g.7011A>C | |
| NG_051620.1:g.609A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.721A>C MANE Select | ENSP00000282572.4:p.Thr241Pro | |
| ENST00000282572.4:c.721A>C | ENSP00000282572.4:p.Thr241Pro | |
| ENST00000501463.2:c.*701A>C | ENSP00000422485.1:n.*701A>C | |
| NM_021147.4:c.721A>C | NP_066970.3:p.Thr241Pro | |
| NR_125346.1:n.1291A>C | ||
| NR_125347.1:n.920A>C | ||
| NR_125348.1:n.785A>C | ||
| NM_021147.5:c.721A>C MANE Select | NP_066970.3:p.Thr241Pro | |
| NR_125346.2:n.1182A>C | ||
| NR_125347.2:n.811A>C |