Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225503T>G , CM000668.2:g.3225503T>G | GRCh38 |
| NC_000006.11:g.3225737T>G , CM000668.1:g.3225737T>G | GRCh37 |
| NC_000006.10:g.3170736T>G | NCBI36 |
| NG_016715.1:g.7232A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.586A>C MANE Select | ENSP00000259818.6:p.Thr196Pro | |
| ENST00000680070.1:n.1516A>C | ||
| ENST00000681707.1:n.1413A>C | ||
| ENST00000681757.1:n.891A>C | ||
| ENST00000259818.7:c.586A>C | ENSP00000259818.6:p.Thr196Pro | |
| ENST00000473006.1:n.703A>C | ||
| NM_178012.4:c.586A>C | NP_821080.1:p.Thr196Pro | |
| XM_011514571.1:c.370A>C | XP_011512873.1:p.Thr124Pro | |
| NM_178012.5:c.586A>C MANE Select | NP_821080.1:p.Thr196Pro |