Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942194A>C , CM000672.2:g.94942194A>C | GRCh38 |
| NC_000010.10:g.96701951A>C , CM000672.1:g.96701951A>C | GRCh37 |
| NC_000010.9:g.96691941A>C | NCBI36 |
| NG_008385.1:g.8537A>C | |
| NG_008385.2:g.9037A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.334A>C MANE Select | ENSP00000260682.6:p.Ile112Leu | |
| ENST00000643112.1:c.334A>C | ENSP00000496202.1:p.Ile112Leu | |
| ENST00000645207.1:n.487A>C | ||
| ENST00000260682.6:c.334A>C | ENSP00000260682.6:p.Ile112Leu | |
| ENST00000461906.1:n.359A>C | ||
| ENST00000473496.1:n.105A>C | ||
| NM_000771.3:c.334A>C | NP_000762.2:p.Ile112Leu | |
| NM_000771.4:c.334A>C MANE Select | NP_000762.2:p.Ile112Leu |