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