Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062864C>T , CM000664.2:g.189062864C>T | GRCh38 |
| NC_000002.11:g.189927590C>T , CM000664.1:g.189927590C>T | GRCh37 |
| NC_000002.10:g.189635835C>T | NCBI36 |
| NG_011799.1:g.122016G>A | |
| NG_011799.2:g.122016G>A | |
| NG_011799.3:g.167438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1977+1G>A MANE Select | ENSP00000364000.3:n.1977+1G>A | |
| ENST00000374866.7:c.1977+1G>A | ENSP00000364000.3:n.1977+1G>A | |
| ENST00000470524.2:n.83+1G>A | ||
| ENST00000618828.1:c.816+1G>A | ENSP00000482184.1:n.816+1G>A | |
| NM_000393.3:c.1977+1G>A | NP_000384.2:n.1977+1G>A | |
| XM_011510573.1:c.1839+1G>A | XP_011508875.1:n.1839+1G>A | |
| NM_000393.4:c.1977+1G>A | NP_000384.2:n.1977+1G>A | |
| XM_011510573.3:c.1839+1G>A | XP_011508875.1:n.1839+1G>A | |
| NM_000393.5:c.1977+1G>A MANE Select | NP_000384.2:n.1977+1G>A |