Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272731C>A , CM000676.2:g.91272731C>A | GRCh38 |
| NC_000014.8:g.91739075C>A , CM000676.1:g.91739075C>A | GRCh37 |
| NC_000014.7:g.90808828C>A | NCBI36 |
| NG_033118.1:g.150114G>T | |
| NG_033118.2:g.150114G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080414.4:c.5981G>T MANE Select | NP_001073883.2:p.Arg1994Leu |
| ENST00000389857.11:c.5981G>T MANE Select | ENSP00000374507.6:p.Arg1994Leu |
| NM_001080414.3:c.5981G>T | NP_001073883.2:p.Arg1994Leu |
| ENST00000331194.8:c.1415G>T | ENSP00000330332.8:p.Arg472Leu |
| ENST00000389857.10:c.5981G>T | ENSP00000374507.6:p.Arg1994Leu |
| ENST00000556726.5:c.2209G>T | |
| XM_011536796.1:c.5873G>T | XP_011535098.1:p.Arg1958Leu |
| XM_011536796.2:c.5873G>T | XP_011535098.1:p.Arg1958Leu |
| XM_017021336.1:c.3062G>T | XP_016876825.1:p.Arg1021Leu |