Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676040C>A , CM000669.2:g.152676040C>A | GRCh38 |
| NC_000007.13:g.152373125C>A , CM000669.1:g.152373125C>A | GRCh37 |
| NC_000007.12:g.152004058C>A | NCBI36 |
| NG_027988.1:g.5126G>T | |
| NG_027988.2:g.5126G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005431.2:c.39+1G>T MANE Select | NP_005422.1:n.39+1G>T |
| ENST00000359321.2:c.39+1G>T MANE Select | ENSP00000352271.1:n.39+1G>T |
| NM_005431.1:c.39+1G>T | NP_005422.1:n.39+1G>T |
| ENST00000359321.1:c.39+1G>T | ENSP00000352271.1:n.39+1G>T |
| ENST00000698506.1:c.-48+1G>T | ENSP00000513758.1:n.-48+1G>T |
| ENST00000698507.1:n.107+1G>T |