Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659364C>G , CM000685.2:g.136659364C>G | GRCh38 |
| NC_000023.10:g.135741523C>G , CM000685.1:g.135741523C>G | GRCh37 |
| NC_000023.9:g.135569189C>G | NCBI36 |
| NG_007280.1:g.16188C>G , LRG_141:g.16188C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*353C>G | ENSP00000512122.1:n.*353C>G | |
| ENST00000695725.1:c.*290C>G | ENSP00000512123.1:n.*290C>G | |
| ENST00000695726.1:n.2703C>G | ||
| ENST00000695729.1:n.3538C>G | ||
| ENST00000370629.7:c.735C>G MANE Select | ENSP00000359663.2:p.Ser245Arg | |
| ENST00000370628.2:c.672C>G | ENSP00000359662.2:p.Ser224Arg | |
| ENST00000370629.6:c.735C>G | ENSP00000359663.2:p.Ser245Arg | |
| NM_000074.2:c.735C>G , LRG_141t1:c.735C>G | NP_000065.1:p.Ser245Arg | |
| NM_000074.3:c.735C>G MANE Select | NP_000065.1:p.Ser245Arg |