Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978391T>C , CM000674.2:g.120978391T>C | GRCh38 |
| NC_000012.11:g.121416194T>C , CM000674.1:g.121416194T>C | GRCh37 |
| NC_000012.10:g.119900577T>C | NCBI36 |
| NG_011731.2:g.4646T>C , LRG_522:g.4646T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253931.2:c.-378T>C | XP_005253988.1:n.-378T>C | |
| XM_024449168.1:c.-378T>C | XP_024304936.1:n.-378T>C |