Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659164T>C , CM000685.2:g.136659164T>C | GRCh38 |
| NC_000023.10:g.135741323T>C , CM000685.1:g.135741323T>C | GRCh37 |
| NC_000023.9:g.135568989T>C | NCBI36 |
| NG_007280.1:g.15988T>C , LRG_141:g.15988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*153T>C | ENSP00000512122.1:n.*153T>C | |
| ENST00000695725.1:c.*90T>C | ENSP00000512123.1:n.*90T>C | |
| ENST00000695726.1:n.2503T>C | ||
| ENST00000695729.1:n.3338T>C | ||
| ENST00000370629.7:c.535T>C MANE Select | ENSP00000359663.2:p.Ser179Pro | |
| ENST00000370628.2:c.472T>C | ENSP00000359662.2:p.Ser158Pro | |
| ENST00000370629.6:c.535T>C | ENSP00000359663.2:p.Ser179Pro | |
| NM_000074.2:c.535T>C , LRG_141t1:c.535T>C | NP_000065.1:p.Ser179Pro | |
| NM_000074.3:c.535T>C MANE Select | NP_000065.1:p.Ser179Pro |