This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400722C>T , CM000670.2:g.18400722C>T | GRCh38 |
| NC_000008.10:g.18258232C>T , CM000670.1:g.18258232C>T | GRCh37 |
| NC_000008.9:g.18302512C>T | NCBI36 |
| NG_012246.1:g.14478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.719C>T MANE Select | ENSP00000286479.3:p.Thr240Ile | |
| ENST00000286479.3:c.719C>T | ENSP00000286479.3:p.Thr240Ile | |
| ENST00000520116.1:c.329C>T | ENSP00000428416.1:p.Thr110Ile | |
| NM_000015.2:c.719C>T | NP_000006.2:p.Thr240Ile | |
| XM_011544358.1:c.719C>T | XP_011542660.1:p.Thr240Ile | |
| XM_017012938.1:c.719C>T | XP_016868427.1:p.Thr240Ile | |
| NM_000015.3:c.719C>T MANE Select | NP_000006.2:p.Thr240Ile |