Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647238G>A , CM000669.2:g.100647238G>A | GRCh38 |
| NC_000007.13:g.100244861G>A , CM000669.1:g.100244861G>A | GRCh37 |
| NC_000007.12:g.100082797G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.806C>T MANE Select | ENSP00000160382.5:p.Ser269Phe | |
| ENST00000160382.9:c.806C>T | ENSP00000160382.5:p.Ser269Phe | |
| ENST00000487125.1:n.342C>T | ||
| NM_016188.4:c.806C>T | NP_057272.1:p.Ser269Phe | |
| XR_927476.1:n.913C>T | ||
| NR_134539.1:n.913C>T | ||
| NM_016188.5:c.806C>T MANE Select | NP_057272.1:p.Ser269Phe | |
| NR_134539.2:n.900C>T |