Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930505T>C , CM000663.2:g.15930505T>C | GRCh38 |
| NC_000001.10:g.16257000T>C , CM000663.1:g.16257000T>C | GRCh37 |
| NC_000001.9:g.16129587T>C | NCBI36 |
| NG_050663.1:g.87642T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5116T>C | ENSP00000388021.2:n.*5116T>C | |
| ENST00000375759.8:c.4265T>C MANE Select | ENSP00000364912.3:p.Leu1422Pro | |
| ENST00000375759.7:c.4265T>C | ENSP00000364912.3:p.Leu1422Pro | |
| NM_015001.2:c.4265T>C | NP_055816.2:p.Leu1422Pro | |
| NM_015001.3:c.4265T>C MANE Select | NP_055816.2:p.Leu1422Pro |