Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320451G>T , CM000667.2:g.159320451G>T | GRCh38 |
| NC_000005.9:g.158747459G>T , CM000667.1:g.158747459G>T | GRCh37 |
| NC_000005.8:g.158680037G>T | NCBI36 |
| NG_009618.1:g.15023C>A , LRG_71:g.15023C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-79C>A | ENSP00000512849.1:n.-79C>A | |
| ENST00000696751.1:c.*47C>A | ENSP00000512850.1:n.*47C>A | |
| ENST00000231228.3:c.552C>A MANE Select | ENSP00000231228.2:p.Asn184Lys | |
| ENST00000231228.2:c.552C>A | ENSP00000231228.2:p.Asn184Lys | |
| NM_002187.2:c.552C>A , LRG_71t1:c.552C>A | NP_002178.2:p.Asn184Lys | |
| XR_001742945.1:n.2G>T | ||
| NM_002187.3:c.552C>A MANE Select | NP_002178.2:p.Asn184Lys |