Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132140T>A , CM000663.2:g.16132140T>A | GRCh38 |
| NC_000001.10:g.16458635T>A , CM000663.1:g.16458635T>A | GRCh37 |
| NC_000001.9:g.16331222T>A | NCBI36 |
| NG_021396.1:g.28948A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358432.8:c.2249A>T MANE Select | ENSP00000351209.5:p.Asn750Ile | |
| ENST00000358432.7:c.2249A>T | ENSP00000351209.5:p.Asn750Ile | |
| NM_004431.3:c.2249A>T | NP_004422.2:p.Asn750Ile | |
| NM_001329090.1:c.2087A>T | NP_001316019.1:p.Asn696Ile | |
| NM_004431.4:c.2249A>T | NP_004422.2:p.Asn750Ile | |
| NM_004431.5:c.2249A>T MANE Select | NP_004422.2:p.Asn750Ile | |
| NM_001329090.2:c.2087A>T | NP_001316019.1:p.Asn696Ile |