Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940416T>C , CM000678.2:g.67940416T>C | GRCh38 |
| NC_000016.9:g.67974319T>C , CM000678.1:g.67974319T>C | GRCh37 |
| NC_000016.8:g.66531820T>C | NCBI36 |
| NG_009778.1:g.8697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.811A>G MANE Select | ENSP00000264005.5:p.Thr271Ala | |
| ENST00000264005.9:c.811A>G | ENSP00000264005.5:p.Thr271Ala | |
| ENST00000570369.5:c.156-342A>G | ||
| ENST00000570980.1:c.595A>G | ENSP00000464651.1:p.Thr199Ala | |
| ENST00000573538.5:c.549A>G | ENSP00000463220.1:n.549A>G | |
| NM_000229.1:c.811A>G | NP_000220.1:p.Thr271Ala | |
| NM_000229.2:c.811A>G MANE Select | NP_000220.1:p.Thr271Ala |