This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111777030T>C , CM000663.2:g.111777030T>C | GRCh38 |
| NC_000001.10:g.112319652T>C , CM000663.1:g.112319652T>C | GRCh37 |
| NC_000001.9:g.112121175T>C | NCBI36 |
| NG_032011.2:g.217126A>G , LRG_445:g.217126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703640.1:n.2396A>G | ||
| ENST00000302127.5:c.1762A>G MANE Select | ENSP00000306923.4:p.Thr588Ala | |
| ENST00000302127.4:c.1705A>G | ENSP00000306923.3:p.Thr569Ala | |
| ENST00000315987.6:c.1762A>G | ENSP00000319591.2:p.Thr588Ala | |
| ENST00000369697.5:c.1705A>G | ENSP00000358711.1:p.Thr569Ala | |
| NM_004980.4:c.1762A>G , LRG_445t1:c.1762A>G | NP_004971.2:p.Thr588Ala | |
| NM_172198.2:c.1705A>G | NP_751948.1:p.Thr569Ala | |
| XM_005270851.3:c.1762A>G | XP_005270908.1:p.Thr588Ala | |
| XM_006710629.2:c.1762A>G | XP_006710692.1:p.Thr588Ala | |
| XM_006710630.2:c.1705A>G | XP_006710693.1:p.Thr569Ala | |
| XM_006710631.2:c.1519-752A>G | XP_006710694.1:n.1519-752A>G | |
| XM_005270851.4:c.1762A>G | XP_005270908.1:p.Thr588Ala | |
| XM_006710629.4:c.1762A>G | XP_006710692.1:p.Thr588Ala | |
| XM_006710630.3:c.1705A>G | XP_006710693.1:p.Thr569Ala | |
| XM_006710631.3:c.1519-752A>G | XP_006710694.1:n.1519-752A>G | |
| XM_017001244.2:c.1762A>G | XP_016856733.1:p.Thr588Ala | |
| NM_001378969.1:c.1762A>G MANE Select | NP_001365898.1:p.Thr588Ala | |
| NM_001378970.1:c.1705A>G | NP_001365899.1:p.Thr569Ala | |
| NM_004980.5:c.1762A>G | NP_004971.2:p.Thr588Ala | |
| NM_172198.3:c.1705A>G | NP_751948.1:p.Thr569Ala |