Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978299G>T , CM000667.2:g.149978299G>T | GRCh38 |
| NC_000005.9:g.149357862G>T , CM000667.1:g.149357862G>T | GRCh37 |
| NC_000005.8:g.149338055G>T | NCBI36 |
| NG_007147.2:g.19417G>T , LRG_684:g.19417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.879G>T | ||
| ENST00000286298.5:c.647G>T MANE Select | ENSP00000286298.4:p.Cys216Phe | |
| ENST00000286298.4:c.647G>T | ENSP00000286298.4:p.Cys216Phe | |
| ENST00000503336.1:c.320G>T | ENSP00000426053.1:p.Cys107Phe | |
| NM_000112.3:c.647G>T , LRG_684t1:c.647G>T | NP_000103.2:p.Cys216Phe | |
| XM_017009191.2:c.647G>T | XP_016864680.1:p.Cys216Phe | |
| NM_000112.4:c.647G>T MANE Select | NP_000103.2:p.Cys216Phe |