Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272826G= , CM000676.2:g.91272826G= | GRCh38 |
| NC_000014.8:g.91739170G= , CM000676.1:g.91739170G= | GRCh37 |
| NC_000014.7:g.90808923G= | NCBI36 |
| NG_033118.1:g.150019C= | |
| NG_033118.2:g.150019C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5886C= MANE Select | ENSP00000374507.6:p.Leu1962= | |
| ENST00000331194.8:c.1320C= | ENSP00000330332.8:p.Leu440= | |
| ENST00000389857.10:c.5886C= | ENSP00000374507.6:p.Leu1962= | |
| ENST00000556726.5:c.2114C= | ||
| NM_001080414.3:c.5886C= | NP_001073883.2:p.Leu1962= | |
| XM_011536796.1:c.5778C= | XP_011535098.1:p.Leu1926= | |
| XM_011536796.2:c.5778C= | XP_011535098.1:p.Leu1926= | |
| XM_017021336.1:c.2967C= | XP_016876825.1:p.Leu989= | |
| NM_001080414.4:c.5886C= MANE Select | NP_001073883.2:p.Leu1962= |