Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77931451G>A , CM000675.2:g.77931451G>A | GRCh38 |
| NC_000013.10:g.78505586G>A , CM000675.1:g.78505586G>A | GRCh37 |
| NC_000013.9:g.77403587G>A | NCBI36 |
| NG_011630.2:g.49079C>T | |
| NG_011630.3:g.48273C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000115.3:c.-51-12827C>T | NP_000106.1:n.-51-12827C>T |
| NM_000115.4:c.-51-12827C>T | NP_000106.1:n.-51-12827C>T |
| NM_000115.5:c.-51-12827C>T | NP_000106.1:n.-51-12827C>T |
| ENST00000646948.1:c.-51-12827C>T | ENSP00000493895.1:n.-51-12827C>T |