Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881800C>G , CM000681.2:g.47881800C>G | GRCh38 |
| NC_000019.9:g.48385057C>G , CM000681.1:g.48385057C>G | GRCh37 |
| NC_000019.8:g.53076869C>G | NCBI36 |
| NG_016745.1:g.9598G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003167.4:c.472+284G>C MANE Select | NP_003158.2:n.472+284G>C |
| ENST00000222002.4:c.472+284G>C MANE Select | ENSP00000222002.2:n.472+284G>C |
| NM_003167.3:c.472+284G>C | NP_003158.2:n.472+284G>C |
| ENST00000222002.3:c.472+284G>C | ENSP00000222002.2:n.472+284G>C |