Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046349A>C , CM000667.2:g.136046349A>C | GRCh38 |
| NC_000005.9:g.135382038A>C , CM000667.1:g.135382038A>C | GRCh37 |
| NC_000005.8:g.135409937A>C | NCBI36 |
| NG_012646.1:g.22455A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.313A>C MANE Select | ENSP00000416330.2:p.Asn105His | |
| ENST00000442011.6:c.313A>C | ENSP00000416330.2:p.Asn105His | |
| ENST00000504185.5:n.470A>C | ||
| ENST00000506699.5:n.378A>C | ||
| ENST00000507018.5:c.230A>C | ||
| ENST00000515433.1:n.605A>C | ||
| NM_000358.2:c.313A>C | NP_000349.1:p.Asn105His | |
| NM_000358.3:c.313A>C MANE Select | NP_000349.1:p.Asn105His |