Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659092C>G , CM000685.2:g.136659092C>G | GRCh38 |
| NC_000023.10:g.135741251C>G , CM000685.1:g.135741251C>G | GRCh37 |
| NC_000023.9:g.135568917C>G | NCBI36 |
| NG_007280.1:g.15916C>G , LRG_141:g.15916C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*81C>G | ENSP00000512122.1:n.*81C>G | |
| ENST00000695725.1:c.*18C>G | ENSP00000512123.1:n.*18C>G | |
| ENST00000695726.1:n.2431C>G | ||
| ENST00000695729.1:n.3266C>G | ||
| ENST00000370629.7:c.463C>G MANE Select | ENSP00000359663.2:p.Leu155Val | |
| ENST00000370628.2:c.400C>G | ENSP00000359662.2:p.Leu134Val | |
| ENST00000370629.6:c.463C>G | ENSP00000359663.2:p.Leu155Val | |
| NM_000074.2:c.463C>G , LRG_141t1:c.463C>G | NP_000065.1:p.Leu155Val | |
| NM_000074.3:c.463C>G MANE Select | NP_000065.1:p.Leu155Val |