Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225542A>G , CM000668.2:g.3225542A>G | GRCh38 |
| NC_000006.11:g.3225776A>G , CM000668.1:g.3225776A>G | GRCh37 |
| NC_000006.10:g.3170775A>G | NCBI36 |
| NG_016715.1:g.7193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.547T>C MANE Select | ENSP00000259818.6:p.Tyr183His | |
| ENST00000680070.1:n.1477T>C | ||
| ENST00000681707.1:n.1374T>C | ||
| ENST00000681757.1:n.852T>C | ||
| ENST00000259818.7:c.547T>C | ENSP00000259818.6:p.Tyr183His | |
| ENST00000473006.1:n.664T>C | ||
| NM_178012.4:c.547T>C | NP_821080.1:p.Tyr183His | |
| XM_011514571.1:c.331T>C | XP_011512873.1:p.Tyr111His | |
| NM_178012.5:c.547T>C MANE Select | NP_821080.1:p.Tyr183His |