Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110248T>G , CM000670.2:g.118110248T>G | GRCh38 |
| NC_000008.10:g.119122487T>G , CM000670.1:g.119122487T>G | GRCh37 |
| NC_000008.9:g.119191668T>G | NCBI36 |
| NG_007455.2:g.6572A>C , LRG_493:g.6572A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.799A>C MANE Select | ENSP00000367446.3:p.Lys267Gln | |
| ENST00000436216.2:c.167A>C | ||
| ENST00000378204.6:c.799A>C | ENSP00000367446.2:p.Lys267Gln | |
| ENST00000436216.1:c.167A>C | ||
| ENST00000437196.1:c.73+726A>C | ENSP00000407299.1:n.73+726A>C | |
| NM_000127.2:c.799A>C , LRG_493t1:c.799A>C | NP_000118.2:p.Lys267Gln | |
| NM_000127.3:c.799A>C MANE Select | NP_000118.2:p.Lys267Gln |