Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272725A>C , CM000676.2:g.91272725A>C | GRCh38 |
| NC_000014.8:g.91739069A>C , CM000676.1:g.91739069A>C | GRCh37 |
| NC_000014.7:g.90808822A>C | NCBI36 |
| NG_033118.1:g.150120T>G | |
| NG_033118.2:g.150120T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5987T>G MANE Select | ENSP00000374507.6:p.Leu1996Arg | |
| ENST00000331194.8:c.1421T>G | ENSP00000330332.8:p.Leu474Arg | |
| ENST00000389857.10:c.5987T>G | ENSP00000374507.6:p.Leu1996Arg | |
| ENST00000556726.5:c.2215T>G | ||
| NM_001080414.3:c.5987T>G | NP_001073883.2:p.Leu1996Arg | |
| XM_011536796.1:c.5879T>G | XP_011535098.1:p.Leu1960Arg | |
| XM_011536796.2:c.5879T>G | XP_011535098.1:p.Leu1960Arg | |
| XM_017021336.1:c.3068T>G | XP_016876825.1:p.Leu1023Arg | |
| NM_001080414.4:c.5987T>G MANE Select | NP_001073883.2:p.Leu1996Arg |