Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77920970A>G , CM000675.2:g.77920970A>G | GRCh38 |
| NC_000013.10:g.78495105A>G , CM000675.1:g.78495105A>G | GRCh37 |
| NC_000013.9:g.77393106A>G | NCBI36 |
| NG_011630.2:g.59560T>C | |
| NG_011630.3:g.58754T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000115.3:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C |
| NM_000115.4:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C |
| NM_000115.5:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C |
| ENST00000646948.1:c.-51-2346T>C | ENSP00000493895.1:n.-51-2346T>C |