ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003179 (NFE)
Genomes Max Group AF
0.0000791 (NFE)
Exomes Max Group AF
0.00002626 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48444614G>A , CM000677.2:g.48444614G>A | GRCh38 |
| NC_000015.9:g.48736811G>A , CM000677.1:g.48736811G>A | GRCh37 |
| NC_000015.8:g.46524103G>A | NCBI36 |
| NG_008805.2:g.206175C>T , LRG_778:g.206175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5964C>T | ENSP00000453958.2:p.Thr1988= | |
| ENST00000674301.2:c.5964C>T | ENSP00000501333.2:p.Thr1988= | |
| ENST00000684448.1:n.4638C>T | ||
| ENST00000316623.10:c.5964C>T MANE Select | ENSP00000325527.5:p.Thr1988= | |
| ENST00000674301.1:c.963C>T | ENSP00000501333.1:p.Thr321= | |
| ENST00000316623.9:c.5964C>T | ENSP00000325527.5:p.Thr1988= | |
| ENST00000537463.6:c.*1727C>T | ENSP00000440294.2:n.*1727C>T | |
| ENST00000559133.5:c.1271C>T | ||
| ENST00000560820.1:n.84C>T | ||
| NM_000138.4:c.5964C>T , LRG_778t1:c.5964C>T | NP_000129.3:p.Thr1988= | |
| NM_000138.5:c.5964C>T MANE Select | NP_000129.3:p.Thr1988= |