Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965528T>C , CM000663.2:g.11965528T>C | GRCh38 |
| NC_000001.10:g.12025585T>C , CM000663.1:g.12025585T>C | GRCh37 |
| NC_000001.9:g.11948172T>C | NCBI36 |
| NG_008159.1:g.35840T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1519T>C MANE Select | ENSP00000196061.4:p.Ser507Pro | |
| ENST00000196061.4:c.1519T>C | ENSP00000196061.4:p.Ser507Pro | |
| ENST00000470133.1:n.133T>C | ||
| ENST00000491536.5:n.147T>C | ||
| NM_000302.3:c.1519T>C | NP_000293.2:p.Ser507Pro | |
| NM_001316320.1:c.1660T>C | NP_001303249.1:p.Ser554Pro | |
| XM_011541594.1:c.1600T>C | XP_011539896.1:p.Ser534Pro | |
| XM_024447707.1:c.853T>C | XP_024303475.1:p.Ser285Pro | |
| NM_000302.4:c.1519T>C MANE Select | NP_000293.2:p.Ser507Pro | |
| NM_001316320.2:c.1660T>C | NP_001303249.1:p.Ser554Pro |