Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110242T>G , CM000670.2:g.118110242T>G | GRCh38 |
| NC_000008.10:g.119122481T>G , CM000670.1:g.119122481T>G | GRCh37 |
| NC_000008.9:g.119191662T>G | NCBI36 |
| NG_007455.2:g.6578A>C , LRG_493:g.6578A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.805A>C MANE Select | ENSP00000367446.3:p.Lys269Gln | |
| ENST00000436216.2:c.173A>C | ||
| ENST00000378204.6:c.805A>C | ENSP00000367446.2:p.Lys269Gln | |
| ENST00000436216.1:c.173A>C | ||
| ENST00000437196.1:c.73+732A>C | ENSP00000407299.1:n.73+732A>C | |
| NM_000127.2:c.805A>C , LRG_493t1:c.805A>C | NP_000118.2:p.Lys269Gln | |
| NM_000127.3:c.805A>C MANE Select | NP_000118.2:p.Lys269Gln |