Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273381C>G , CM000676.2:g.91273381C>G | GRCh38 |
| NC_000014.8:g.91739725C>G , CM000676.1:g.91739725C>G | GRCh37 |
| NC_000014.7:g.90809478C>G | NCBI36 |
| NG_033118.1:g.149464G>C | |
| NG_033118.2:g.149464G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080414.4:c.5331G>C MANE Select | NP_001073883.2:p.Leu1777= |
| ENST00000389857.11:c.5331G>C MANE Select | ENSP00000374507.6:p.Leu1777= |
| NM_001080414.3:c.5331G>C | NP_001073883.2:p.Leu1777= |
| ENST00000331194.8:c.903G>C | ENSP00000330332.8:p.Leu301= |
| ENST00000389857.10:c.5331G>C | ENSP00000374507.6:p.Leu1777= |
| ENST00000556726.5:c.1559G>C | |
| XM_011536796.1:c.5223G>C | XP_011535098.1:p.Leu1741= |
| XM_011536796.2:c.5223G>C | XP_011535098.1:p.Leu1741= |
| XM_017021336.1:c.2412G>C | XP_016876825.1:p.Leu804= |