Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019608G>T , CM000674.2:g.6019608G>T | GRCh38 |
| NC_000012.11:g.6128774G>T , CM000674.1:g.6128774G>T | GRCh37 |
| NC_000012.10:g.5999035G>T | NCBI36 |
| NG_009072.1:g.110063C>A | |
| NG_009072.2:g.110063C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3810C>A MANE Select | ENSP00000261405.5:p.Phe1270Leu | |
| ENST00000261405.9:c.3810C>A | ENSP00000261405.5:p.Phe1270Leu | |
| ENST00000538635.5:n.421-25674C>A | ||
| ENST00000539641.1:n.608C>A | ||
| NM_000552.3:c.3810C>A | NP_000543.2:p.Phe1270Leu | |
| NM_000552.4:c.3810C>A | NP_000543.2:p.Phe1270Leu | |
| NM_000552.5:c.3810C>A MANE Select | NP_000543.3:p.Phe1270Leu |