Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850296G= , CM000672.2:g.94850296G= | GRCh38 |
| NC_000010.10:g.96610053G= , CM000672.1:g.96610053G= | GRCh37 |
| NC_000010.9:g.96600043G= | NCBI36 |
| NG_008384.2:g.92591G= | |
| NG_008384.3:g.92616G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1291+238G= MANE Select | ENSP00000360372.3:n.1291+238G= | |
| ENST00000645461.1:n.2202+238G= | ||
| ENST00000371321.7:c.1291+238G= | ENSP00000360372.3:n.1291+238G= | |
| ENST00000464755.1:c.2054+238G= | ENSP00000483243.1:n.2054+238G= | |
| NM_000769.2:c.1291+238G= | NP_000760.1:n.1291+238G= | |
| NM_000769.4:c.1291+238G= MANE Select | NP_000760.1:n.1291+238G= |