Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957868G= , CM000669.2:g.142957868G= | GRCh38 |
| NC_000007.13:g.142654955G= , CM000669.1:g.142654955G= | GRCh37 |
| NC_000007.12:g.142365077G= | NCBI36 |
| NG_007492.1:g.9549C= | |
| NG_007492.2:g.9549C= | |
| NG_007492.3:g.9549C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.631C= MANE Select | ENSP00000347409.2:p.Leu211= | |
| ENST00000467543.6:c.*483C= | ENSP00000420011.2:n.*483C= | |
| ENST00000355265.6:c.631C= | ENSP00000347409.2:p.Leu211= | |
| ENST00000467543.5:c.574C= | ENSP00000420011.1:p.Leu192= | |
| ENST00000476829.5:c.525+436C= | ENSP00000419889.1:n.525+436C= | |
| ENST00000479768.6:n.749C= | ||
| ENST00000494148.1:n.230C= | ||
| NM_000420.2:c.631C= | NP_000411.1:p.Leu211= | |
| XM_005249993.2:c.667C= | XP_005250050.1:p.Leu223= | |
| NM_000420.3:c.631C= MANE Select | NP_000411.1:p.Leu211= |