Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586513T>C , CM000673.2:g.67586513T>C | GRCh38 |
| NC_000011.9:g.67353984T>C , CM000673.1:g.67353984T>C | GRCh37 |
| NC_000011.8:g.67110560T>C | NCBI36 |
| NG_012075.1:g.7919T>C , LRG_723:g.7919T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.461T>C | ENSP00000381604.1:p.Leu154Pro | |
| ENST00000398606.10:c.569T>C MANE Select | ENSP00000381607.3:p.Leu190Pro | |
| ENST00000398603.5:c.461T>C | ENSP00000381604.1:p.Leu154Pro | |
| ENST00000398606.7:c.569T>C | ENSP00000381607.3:p.Leu190Pro | |
| ENST00000467591.1:n.680T>C | ||
| ENST00000494593.1:n.1541T>C | ||
| ENST00000498765.5:c.632T>C | ||
| NM_000852.3:c.569T>C , LRG_723t1:c.569T>C | NP_000843.1:p.Leu190Pro | |
| NM_000852.4:c.569T>C MANE Select | NP_000843.1:p.Leu190Pro |