Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242410C= , CM000684.2:g.20242410C= | GRCh38 |
| NC_000022.10:g.20229933C= , CM000684.1:g.20229933C= | GRCh37 |
| NC_000022.9:g.18609933C= | NCBI36 |
| NG_012176.1:g.30884G= | |
| NG_012176.2:g.30884G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.723G= MANE Select | ENSP00000043402.7:p.Leu241= | |
| ENST00000043402.7:c.723G= | ENSP00000043402.7:p.Leu241= | |
| ENST00000416372.5:c.782G= | ||
| ENST00000425986.1:c.980G= | ||
| NM_023004.5:c.723G= | NP_075380.1:p.Leu241= | |
| NM_023004.6:c.723G= MANE Select | NP_075380.1:p.Leu241= |