Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189068709A>T , CM000664.2:g.189068709A>T | GRCh38 |
| NC_000002.11:g.189933435A>T , CM000664.1:g.189933435A>T | GRCh37 |
| NC_000002.10:g.189641680A>T | NCBI36 |
| NG_011799.1:g.116171T>A | |
| NG_011799.2:g.116171T>A | |
| NG_011799.3:g.161593T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.1257+77T>A MANE Select | NP_000384.2:n.1257+77T>A |
| ENST00000374866.9:c.1257+77T>A MANE Select | ENSP00000364000.3:n.1257+77T>A |
| NM_000393.3:c.1257+77T>A | NP_000384.2:n.1257+77T>A |
| NM_000393.4:c.1257+77T>A | NP_000384.2:n.1257+77T>A |
| ENST00000374866.7:c.1257+77T>A | ENSP00000364000.3:n.1257+77T>A |
| ENST00000618828.1:c.359-2276T>A | ENSP00000482184.1:n.359-2276T>A |
| XM_011510573.1:c.1119+77T>A | XP_011508875.1:n.1119+77T>A |
| XM_011510573.3:c.1119+77T>A | XP_011508875.1:n.1119+77T>A |