Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019541A>G , CM000674.2:g.6019541A>G | GRCh38 |
| NC_000012.11:g.6128707A>G , CM000674.1:g.6128707A>G | GRCh37 |
| NC_000012.10:g.5998968A>G | NCBI36 |
| NG_009072.1:g.110130T>C | |
| NG_009072.2:g.110130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3877T>C MANE Select | ENSP00000261405.5:p.Phe1293Leu | |
| ENST00000261405.9:c.3877T>C | ENSP00000261405.5:p.Phe1293Leu | |
| ENST00000538635.5:n.421-25607T>C | ||
| ENST00000539641.1:n.675T>C | ||
| NM_000552.3:c.3877T>C | NP_000543.2:p.Phe1293Leu | |
| NM_000552.4:c.3877T>C | NP_000543.2:p.Phe1293Leu | |
| NM_000552.5:c.3877T>C MANE Select | NP_000543.3:p.Phe1293Leu |