Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781913G= , CM000672.2:g.94781913G= | GRCh38 |
| NC_000010.10:g.96541670G= , CM000672.1:g.96541670G= | GRCh37 |
| NC_000010.9:g.96531660G= | NCBI36 |
| NG_008384.2:g.24208G= | |
| NG_008384.3:g.24233G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.735G= MANE Select | ENSP00000360372.3:p.Leu245= | |
| ENST00000645461.1:n.1788G= | ||
| ENST00000371321.7:c.735G= | ENSP00000360372.3:p.Leu245= | |
| ENST00000464755.1:c.1498G= | ENSP00000483243.1:n.1498G= | |
| NM_000769.2:c.735G= | NP_000760.1:p.Leu245= | |
| NM_000769.4:c.735G= MANE Select | NP_000760.1:p.Leu245= |