Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883190G>T , CM000676.2:g.100883190G>T | GRCh38 |
| NC_000014.8:g.101349527G>T , CM000676.1:g.101349527G>T | GRCh37 |
| NC_000014.7:g.100419280G>T | NCBI36 |
| NG_045001.1:g.6658C>A | |
| NG_045000.5:g.51922G>T | |
| NG_045000.6:g.51922G>T | |
| NG_045001.2:g.25533C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1599C>A MANE Select | ENSP00000497482.1:p.Asn533Lys | |
| ENST00000534062.1:c.1599C>A | ENSP00000435342.1:p.Asn533Lys | |
| NM_001134888.2:c.1599C>A | NP_001128360.1:p.Asn533Lys | |
| NM_001134888.3:c.1599C>A MANE Select | NP_001128360.1:p.Asn533Lys |