Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285499C>G , CM000678.2:g.2285499C>G | GRCh38 |
| NC_000016.9:g.2335500C>G , CM000678.1:g.2335500C>G | GRCh37 |
| NC_000016.8:g.2275501C>G | NCBI36 |
| NG_011790.1:g.60248G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3426G>C MANE Select | NP_001080.2:p.Trp1142Cys |
| ENST00000301732.10:c.3426G>C MANE Select | ENSP00000301732.5:p.Trp1142Cys |
| NM_001089.2:c.3426G>C | NP_001080.2:p.Trp1142Cys |
| ENST00000301732.9:c.3426G>C | ENSP00000301732.5:p.Trp1142Cys |
| ENST00000382381.7:c.3252G>C | ENSP00000371818.3:p.Trp1084Cys |