Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988735G>A , CM000672.2:g.94988735G>A | GRCh38 |
| NC_000010.10:g.96748492G>A , CM000672.1:g.96748492G>A | GRCh37 |
| NC_000010.9:g.96738482G>A | NCBI36 |
| NG_008385.1:g.55078G>A | |
| NG_008385.2:g.55578G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.1292-112G>A MANE Select | NP_000762.2:n.1292-112G>A |
| ENST00000260682.8:c.1292-112G>A MANE Select | ENSP00000260682.6:n.1292-112G>A |
| NM_000771.3:c.1292-112G>A | NP_000762.2:n.1292-112G>A |
| ENST00000260682.6:c.1292-112G>A | ENSP00000260682.6:n.1292-112G>A |
| ENST00000643112.1:c.*301-112G>A | ENSP00000496202.1:n.*301-112G>A |