Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539531A>G , CM000665.2:g.186539531A>G | GRCh38 |
| NC_000003.11:g.186257320A>G , CM000665.1:g.186257320A>G | GRCh37 |
| NC_000003.10:g.187740014A>G | NCBI36 |
| NG_009829.1:g.9848T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.88T>C MANE Select | ENSP00000312099.5:p.Phe30Leu | |
| ENST00000307944.5:c.88T>C | ENSP00000312099.5:p.Phe30Leu | |
| ENST00000392499.6:c.88T>C | ENSP00000376287.2:p.Phe30Leu | |
| ENST00000460288.1:n.990T>C | ||
| NM_017541.2:c.88T>C | NP_060011.1:p.Phe30Leu | |
| NM_017541.3:c.88T>C | NP_060011.1:p.Phe30Leu | |
| NM_017541.4:c.88T>C MANE Select | NP_060011.1:p.Phe30Leu |