Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60281414C>A , CM000670.2:g.60281414C>A | GRCh38 |
| NC_000008.10:g.61193973C>A , CM000670.1:g.61193973C>A | GRCh37 |
| NC_000008.9:g.61356527C>A | NCBI36 |
| NG_023193.1:g.4982G>T | |
| NG_023193.2:g.4982G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001321837.1:c.-267G>T | NP_001308766.1:n.-267G>T | |
| NM_001321838.1:c.-267G>T | NP_001308767.1:n.-267G>T | |
| NM_001321839.1:c.-267G>T | NP_001308768.1:n.-267G>T | |
| NM_004056.5:c.-267G>T | NP_004047.3:n.-267G>T | |
| NR_135821.1:n.10G>T |