Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077067T>C , CM000672.2:g.43077067T>C | GRCh38 |
| NC_000010.10:g.43572515T>C , CM000672.1:g.43572515T>C | GRCh37 |
| NC_000010.9:g.42892521T>C | NCBI36 |
| NG_007489.1:g.4999T>C , LRG_518:g.4999T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671844.1:c.-192T>C | ENSP00000500541.1:n.-192T>C | |
| ENST00000355710.7:c.-192T>C | ENSP00000347942.3:n.-192T>C | |
| XM_011540027.1:c.-192T>C | XP_011538329.1:n.-192T>C | |
| NM_020630.5:c.-192T>C | NP_065681.1:n.-192T>C | |
| NM_020975.5:c.-192T>C | NP_066124.1:n.-192T>C |