This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01291443 (NFE)
Genomes Max Group AF
0.01240324 (NFE)
Exomes Max Group AF
0.01290676 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428581C>T , CM000671.2:g.37428581C>T | GRCh38 |
| NC_000009.11:g.37428578C>T , CM000671.1:g.37428578C>T | GRCh37 |
| NC_000009.10:g.37418578C>T | NCBI36 |
| NG_008135.1:g.10872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.493+9C>T MANE Select | ENSP00000313432.6:n.493+9C>T | |
| ENST00000318158.10:c.493+9C>T | ENSP00000313432.6:n.493+9C>T | |
| ENST00000377824.8:n.530+9C>T | ||
| ENST00000460882.5:n.520+9C>T | ||
| ENST00000480596.5:n.44C>T | ||
| ENST00000491488.5:n.198+9C>T | ||
| ENST00000493368.5:n.559C>T | ||
| ENST00000497693.1:n.876C>T | ||
| ENST00000607784.1:c.493+9C>T | ENSP00000475569.1:n.493+9C>T | |
| NM_012203.1:c.493+9C>T | NP_036335.1:n.493+9C>T | |
| XM_005251631.1:c.172+9C>T | XP_005251688.1:n.172+9C>T | |
| XM_011518073.1:c.-261C>T | XP_011516375.1:n.-261C>T | |
| XR_929374.1:n.587C>T | ||
| XM_017015320.2:c.493+9C>T | XP_016870809.1:n.493+9C>T | |
| XM_017015321.2:c.493+9C>T | XP_016870810.1:n.493+9C>T | |
| XM_017015323.2:c.-261C>T | XP_016870812.1:n.-261C>T | |
| XM_024447716.1:c.766+9C>T | XP_024303484.1:n.766+9C>T | |
| XM_024447717.1:c.766+9C>T | XP_024303485.1:n.766+9C>T | |
| XR_002956828.1:n.781+9C>T | ||
| XR_002956829.1:n.781+9C>T | ||
| XR_002956830.1:n.552+9C>T | ||
| XR_002956831.1:n.227+9C>T | ||
| XR_002956832.1:n.561C>T | ||
| NM_012203.2:c.493+9C>T MANE Select | NP_036335.1:n.493+9C>T |