Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41220372C>A , CM000681.2:g.41220372C>A | GRCh38 |
| NC_000019.9:g.41726277C>A , CM000681.1:g.41726277C>A | GRCh37 |
| NC_000019.8:g.46418117C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021913.5:c.86-264C>A MANE Select | NP_068713.2:n.86-264C>A |
| ENST00000301178.9:c.86-264C>A MANE Select | ENSP00000301178.3:n.86-264C>A |
| NM_001699.5:c.86-264C>A | NP_001690.2:n.86-264C>A |
| NM_001699.6:c.86-264C>A | NP_001690.2:n.86-264C>A |
| NM_021913.4:c.86-264C>A | NP_068713.2:n.86-264C>A |
| ENST00000301178.8:c.86-264C>A | ENSP00000301178.3:n.86-264C>A |
| ENST00000359092.7:c.86-264C>A | ENSP00000351995.2:n.86-264C>A |
| ENST00000599659.5:n.100-264C>A |