Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272737A>T , CM000676.2:g.91272737A>T | GRCh38 |
| NC_000014.8:g.91739081A>T , CM000676.1:g.91739081A>T | GRCh37 |
| NC_000014.7:g.90808834A>T | NCBI36 |
| NG_033118.1:g.150108T>A | |
| NG_033118.2:g.150108T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5975T>A MANE Select | ENSP00000374507.6:p.Leu1992His | |
| ENST00000331194.8:c.1409T>A | ENSP00000330332.8:p.Leu470His | |
| ENST00000389857.10:c.5975T>A | ENSP00000374507.6:p.Leu1992His | |
| ENST00000556726.5:c.2203T>A | ||
| NM_001080414.3:c.5975T>A | NP_001073883.2:p.Leu1992His | |
| XM_011536796.1:c.5867T>A | XP_011535098.1:p.Leu1956His | |
| XM_011536796.2:c.5867T>A | XP_011535098.1:p.Leu1956His | |
| XM_017021336.1:c.3056T>A | XP_016876825.1:p.Leu1019His | |
| NM_001080414.4:c.5975T>A MANE Select | NP_001073883.2:p.Leu1992His |