Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17085639T>A , CM000672.2:g.17085639T>A | GRCh38 |
| NC_000010.10:g.17127638T>A , CM000672.1:g.17127638T>A | GRCh37 |
| NC_000010.9:g.17167644T>A | NCBI36 |
| NG_008967.1:g.49179A>T , LRG_540:g.49179A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.2068A>T MANE Select | NP_001072.2:p.Ile690Phe |
| ENST00000377833.10:c.2068A>T MANE Select | ENSP00000367064.4:p.Ile690Phe |
| NM_001081.3:c.2068A>T , LRG_540t1:c.2068A>T | NP_001072.2:p.Ile690Phe |
| ENST00000377833.8:c.2068A>T | ENSP00000367064.4:p.Ile690Phe |
| XM_011519708.1:c.2068A>T | XP_011518010.1:p.Ile690Phe |
| XM_011519708.2:c.2068A>T | XP_011518010.1:p.Ile690Phe |