Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300859T>A , CM000667.2:g.128300859T>A | GRCh38 |
| NC_000005.9:g.127636551T>A , CM000667.1:g.127636551T>A | GRCh37 |
| NC_000005.8:g.127664450T>A | NCBI36 |
| NG_008750.1:g.242185A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2908A>T | ||
| ENST00000703785.1:n.2827A>T | ||
| ENST00000262464.9:c.6124A>T MANE Select | ENSP00000262464.4:p.Ile2042Phe | |
| ENST00000262464.8:c.6124A>T | ENSP00000262464.4:p.Ile2042Phe | |
| ENST00000508053.5:c.6124A>T | ENSP00000424571.1:p.Ile2042Phe | |
| ENST00000619499.4:c.6121A>T | ENSP00000482132.1:p.Ile2041Phe | |
| NM_001999.3:c.6124A>T | NP_001990.2:p.Ile2042Phe | |
| XM_017009228.2:c.5971A>T | XP_016864717.1:p.Ile1991Phe | |
| NM_001999.4:c.6124A>T MANE Select | NP_001990.2:p.Ile2042Phe |