This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41877355C>A , CM000681.2:g.41877355C>A | GRCh38 |
| NC_000019.9:g.42381425C>A , CM000681.1:g.42381425C>A | GRCh37 |
| NC_000019.8:g.47073265C>A | NCBI36 |
| NG_009619.1:g.5236C>A , LRG_42:g.5236C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597454.2:c.51C>A | ENSP00000468922.2:p.Leu17= | |
| ENST00000221972.8:c.51C>A MANE Select | ENSP00000221972.3:p.Leu17= | |
| ENST00000221972.7:c.51C>A | ENSP00000221972.3:p.Leu17= | |
| ENST00000444740.2:c.51C>A | ENSP00000400605.1:p.Leu17= | |
| ENST00000597454.1:c.51C>A | ENSP00000468922.1:p.Leu17= | |
| NM_001783.3:c.51C>A , LRG_42t1:c.51C>A | NP_001774.1:p.Leu17= | |
| NM_021601.3:c.51C>A | NP_067612.1:p.Leu17= | |
| NM_001783.4:c.51C>A MANE Select | NP_001774.1:p.Leu17= | |
| NM_021601.4:c.51C>A | NP_067612.1:p.Leu17= |