Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272675C>T , CM000676.2:g.91272675C>T | GRCh38 |
| NC_000014.8:g.91739019C>T , CM000676.1:g.91739019C>T | GRCh37 |
| NC_000014.7:g.90808772C>T | NCBI36 |
| NG_033118.1:g.150170G>A | |
| NG_033118.2:g.150170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6037G>A MANE Select | ENSP00000374507.6:p.Glu2013Lys | |
| ENST00000331194.8:c.1471G>A | ENSP00000330332.8:p.Glu491Lys | |
| ENST00000389857.10:c.6037G>A | ENSP00000374507.6:p.Glu2013Lys | |
| ENST00000556726.5:c.2265G>A | ||
| NM_001080414.3:c.6037G>A | NP_001073883.2:p.Glu2013Lys | |
| XM_011536796.1:c.5929G>A | XP_011535098.1:p.Glu1977Lys | |
| XM_011536796.2:c.5929G>A | XP_011535098.1:p.Glu1977Lys | |
| XM_017021336.1:c.3118G>A | XP_016876825.1:p.Glu1040Lys | |
| NM_001080414.4:c.6037G>A MANE Select | NP_001073883.2:p.Glu2013Lys |