Linked Data
ClinVar Variation Id:
377299
ClinVar RCV Id:
RCV000438259
dbSNP Id:
rs143765249
ExAC:
21:46058044 G / A
gnomAD v2:
21-46058044-G-A
gnomAD v3:
21-44638127-G-A
gnomAD v4:
21-44638127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44638127G>A , CM000683.2:g.44638127G>A | GRCh38 |
| NC_000021.8:g.46058044G>A , CM000683.1:g.46058044G>A | GRCh37 |
| NC_000021.7:g.44882472G>A | NCBI36 |
| NG_033806.1:g.78452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323084.9:c.83-70122C>T (TSPEAR) MANE Select | ENSP00000321987.4:n.83-70122C>T | |
| ENST00000622352.3:c.1067G>A (KRTAP10-4) | ENSP00000484068.3:p.Arg356His | |
| ENST00000642437.1:c.*27+52418C>T (TSPEAR) | ENSP00000496535.1:n.*27+52418C>T | |
| ENST00000323084.8:c.83-70122C>T (TSPEAR) | ENSP00000321987.4:n.83-70122C>T | |
| ENST00000380095.2:c.710G>A (KRTAP10-10) MANE Select | ENSP00000369438.1:p.Arg237His | |
| ENST00000613245.4:c.83-70122C>T (TSPEAR) | ENSP00000478010.1:n.83-70122C>T | |
| ENST00000614657.4:c.-123+52418C>T (TSPEAR) | ENSP00000482422.1:n.-123+52418C>T | |
| NM_001272037.1:c.-123+52418C>T (TSPEAR) | NP_001258966.1:n.-123+52418C>T | |
| NM_144991.2:c.83-70122C>T (TSPEAR) | NP_659428.2:n.83-70122C>T | |
| NM_181688.2:c.710G>A (KRTAP10-10) | NP_859016.1:p.Arg237His | |
| NM_144991.3:c.83-70122C>T (TSPEAR) MANE Select | NP_659428.2:n.83-70122C>T | |
| NM_001272037.2:c.-123+52418C>T (TSPEAR) | NP_001258966.1:n.-123+52418C>T | |
| NM_181688.3:c.710G>A (KRTAP10-10) MANE Select | NP_859016.1:p.Arg237His |