Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988803G= , CM000672.2:g.94988803G= | GRCh38 |
| NC_000010.10:g.96748560G= , CM000672.1:g.96748560G= | GRCh37 |
| NC_000010.9:g.96738550G= | NCBI36 |
| NG_008385.1:g.55146G= | |
| NG_008385.2:g.55646G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1292-44G= MANE Select | ENSP00000260682.6:n.1292-44G= | |
| ENST00000643112.1:c.*301-44G= | ENSP00000496202.1:n.*301-44G= | |
| ENST00000260682.6:c.1292-44G= | ENSP00000260682.6:n.1292-44G= | |
| NM_000771.3:c.1292-44G= | NP_000762.2:n.1292-44G= | |
| NM_000771.4:c.1292-44G= MANE Select | NP_000762.2:n.1292-44G= |