Linked Data
ClinVar Variation Id:
819214
dbSNP Id:
rs145666157
gnomAD v3:
22-29674934-C-A
gnomAD v4:
22-29674934-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29674934C>A , CM000684.2:g.29674934C>A | GRCh38 |
| NC_000022.10:g.30070923C>A , CM000684.1:g.30070923C>A | GRCh37 |
| NC_000022.9:g.28400923C>A | NCBI36 |
| NG_009057.1:g.76379C>A , LRG_511:g.76379C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.1304C>A | ENSP00000354529.6:p.Thr435Lys | |
| ENST00000673312.2:c.*933C>A | ENSP00000500186.2:n.*933C>A | |
| ENST00000338641.10:c.1439C>A MANE Select | ENSP00000344666.5:p.Thr480Lys | |
| ENST00000361166.9:c.857C>A | ENSP00000354529.5:p.Thr286Lys | |
| ENST00000672461.1:c.1439C>A | ENSP00000500919.1:p.Thr480Lys | |
| ENST00000672805.1:c.*1321C>A | ENSP00000500295.1:n.*1321C>A | |
| ENST00000672896.1:c.1439C>A | ENSP00000500117.1:p.Thr480Lys | |
| ENST00000673312.1:c.1458C>A | ENSP00000500186.1:n.1458C>A | |
| ENST00000334961.11:c.1190C>A | ENSP00000335652.7:p.Thr397Lys | |
| ENST00000338641.8:c.1439C>A | ENSP00000344666.4:p.Thr480Lys | |
| ENST00000353887.8:c.1190C>A | ENSP00000340626.4:p.Thr397Lys | |
| ENST00000361166.8:c.1439C>A | ENSP00000354529.4:p.Thr480Lys | |
| ENST00000361452.8:c.1316C>A | ENSP00000354897.4:p.Thr439Lys | |
| ENST00000361676.8:c.1313C>A | ENSP00000355183.4:p.Thr438Lys | |
| ENST00000397789.3:c.1439C>A | ENSP00000380891.3:p.Thr480Lys | |
| ENST00000403435.5:c.1352C>A | ENSP00000384029.1:p.Thr451Lys | |
| ENST00000403999.7:c.1439C>A | ENSP00000384797.3:p.Thr480Lys | |
| ENST00000413209.6:c.448-19818C>A | ENSP00000409921.2:n.448-19818C>A | |
| ENST00000432151.5:c.621C>A | ENSP00000395885.1:p.His207Gln | |
| NM_000268.3:c.1439C>A , LRG_511t1:c.1439C>A | NP_000259.1:p.Thr480Lys | |
| NM_016418.5:c.1439C>A , LRG_511t2:c.1439C>A | NP_057502.2:p.Thr480Lys | |
| NM_181825.2:c.1439C>A | NP_861546.1:p.Thr480Lys | |
| NM_181828.2:c.1313C>A | NP_861966.1:p.Thr438Lys | |
| NM_181829.2:c.1316C>A | NP_861967.1:p.Thr439Lys | |
| NM_181830.2:c.1190C>A | NP_861968.1:p.Thr397Lys | |
| NM_181831.2:c.1190C>A | NP_861969.1:p.Thr397Lys | |
| NM_181832.2:c.1439C>A | NP_861970.1:p.Thr480Lys | |
| NM_181833.2:c.448-19818C>A | NP_861971.1:n.448-19818C>A | |
| NR_156186.1:n.1998C>A | ||
| XM_017028809.2:c.1325C>A | XP_016884298.1:p.Thr442Lys | |
| XM_017028810.1:c.1325C>A | XP_016884299.1:p.Thr442Lys | |
| NM_000268.4:c.1439C>A MANE Select | NP_000259.1:p.Thr480Lys | |
| NM_181825.3:c.1439C>A | NP_861546.1:p.Thr480Lys | |
| NM_181828.3:c.1313C>A | NP_861966.1:p.Thr438Lys | |
| NM_181829.3:c.1316C>A | NP_861967.1:p.Thr439Lys | |
| NM_181830.3:c.1190C>A | NP_861968.1:p.Thr397Lys | |
| NM_181831.3:c.1190C>A | NP_861969.1:p.Thr397Lys | |
| NM_181832.3:c.1439C>A | NP_861970.1:p.Thr480Lys | |
| NR_156186.2:n.1921C>A | ||
| NM_181833.3:c.448-19818C>A | NP_861971.1:n.448-19818C>A |