Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713303A>G , CM000681.2:g.6713303A>G | GRCh38 |
| NC_000019.9:g.6713314A>G , CM000681.1:g.6713314A>G | GRCh37 |
| NC_000019.8:g.6664314A>G | NCBI36 |
| NG_009557.1:g.12349T>C , LRG_27:g.12349T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.766T>C | ENSP00000512083.1:p.Ser256Pro | |
| ENST00000695654.1:c.13T>C | ENSP00000512085.1:p.Ser5Pro | |
| ENST00000695692.1:n.213T>C | ||
| ENST00000245907.11:c.889T>C MANE Select | ENSP00000245907.4:p.Ser297Pro | |
| ENST00000245907.10:c.889T>C | ENSP00000245907.4:p.Ser297Pro | |
| ENST00000594270.5:n.13T>C | ||
| ENST00000595577.1:n.393T>C | ||
| ENST00000597442.5:n.139T>C | ||
| NM_000064.3:c.889T>C | NP_000055.2:p.Ser297Pro | |
| NM_000064.4:c.889T>C MANE Select | NP_000055.2:p.Ser297Pro |