Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16851508C>T , CM000681.2:g.16851508C>T | GRCh38 |
| NC_000019.9:g.16962319C>T , CM000681.1:g.16962319C>T | GRCh37 |
| NC_000019.8:g.16823319C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248054.10:c.823C>T MANE Select | ENSP00000248054.4:p.Leu275Phe | |
| ENST00000248054.9:c.823C>T | ENSP00000248054.4:p.Leu275Phe | |
| ENST00000379803.5:c.823C>T | ENSP00000369131.1:p.Leu275Phe | |
| ENST00000596638.1:c.258C>T | ||
| ENST00000596802.5:c.823C>T | ENSP00000473039.1:p.Leu275Phe | |
| NM_001297595.1:c.823C>T | NP_001284524.1:p.Leu275Phe | |
| NM_015260.3:c.823C>T | NP_056075.1:p.Leu275Phe | |
| NM_001297595.2:c.823C>T MANE Select | NP_001284524.1:p.Leu275Phe | |
| NM_015260.4:c.823C>T | NP_056075.1:p.Leu275Phe |