Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077059A>C , CM000672.2:g.43077059A>C | GRCh38 |
| NC_000010.10:g.43572507A>C , CM000672.1:g.43572507A>C | GRCh37 |
| NC_000010.9:g.42892513A>C | NCBI36 |
| NG_007489.1:g.4991A>C , LRG_518:g.4991A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355710.7:c.-200A>C | ENSP00000347942.3:n.-200A>C | |
| XM_011540027.1:c.-200A>C | XP_011538329.1:n.-200A>C | |
| NM_020630.5:c.-200A>C | NP_065681.1:n.-200A>C | |
| NM_020975.5:c.-200A>C | NP_066124.1:n.-200A>C |