Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272715G= , CM000676.2:g.91272715G= | GRCh38 |
| NC_000014.8:g.91739059G= , CM000676.1:g.91739059G= | GRCh37 |
| NC_000014.7:g.90808812G= | NCBI36 |
| NG_033118.1:g.150130C= | |
| NG_033118.2:g.150130C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5997C= MANE Select | ENSP00000374507.6:p.Cys1999= | |
| ENST00000331194.8:c.1431C= | ENSP00000330332.8:p.Cys477= | |
| ENST00000389857.10:c.5997C= | ENSP00000374507.6:p.Cys1999= | |
| ENST00000556726.5:c.2225C= | ||
| NM_001080414.3:c.5997C= | NP_001073883.2:p.Cys1999= | |
| XM_011536796.1:c.5889C= | XP_011535098.1:p.Cys1963= | |
| XM_011536796.2:c.5889C= | XP_011535098.1:p.Cys1963= | |
| XM_017021336.1:c.3078C= | XP_016876825.1:p.Cys1026= | |
| NM_001080414.4:c.5997C= MANE Select | NP_001073883.2:p.Cys1999= |