Linked Data
ClinVar Variation Id:
323632
ClinVar RCV Id:
RCV000280707
dbSNP Id:
rs886053022
gnomAD v2:
17-43971756-G-A
gnomAD v3:
17-45894390-G-A
gnomAD v4:
17-45894390-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45894390G>A , CM000679.2:g.45894390G>A | GRCh38 |
| NC_000017.10:g.43971756G>A , CM000679.1:g.43971756G>A | GRCh37 |
| NC_000017.9:g.41327550G>A | NCBI36 |
| NG_007398.1:g.4927G>A | |
| NG_007398.2:g.4928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262410.9:c.-314G>A (MAPT) | ENSP00000262410.5:n.-314G>A | |
| ENST00000340799.9:c.-314G>A (MAPT) | ENSP00000340438.5:n.-314G>A | |
| ENST00000344290.9:c.-314G>A (MAPT) | ENSP00000340820.5:n.-314G>A | |
| ENST00000351559.9:c.-314G>A (MAPT) | ENSP00000303214.7:n.-314G>A | |
| ENST00000535772.5:c.-314G>A (MAPT) | ENSP00000443028.1:n.-314G>A | |
| NM_001123066.3:c.-314G>A (MAPT) | NP_001116538.2:n.-314G>A | |
| NM_001123067.3:c.-314G>A (MAPT) | NP_001116539.1:n.-314G>A | |
| NM_001203251.1:c.-314G>A (MAPT) | NP_001190180.1:n.-314G>A | |
| NM_001203252.1:c.-314G>A (MAPT) | NP_001190181.1:n.-314G>A | |
| NM_005910.5:c.-314G>A (MAPT) | NP_005901.2:n.-314G>A | |
| NM_016834.4:c.-314G>A (MAPT) | NP_058518.1:n.-314G>A | |
| NM_016835.4:c.-314G>A (MAPT) | NP_058519.3:n.-314G>A | |
| NM_016841.4:c.-314G>A (MAPT) | NP_058525.1:n.-314G>A | |
| NR_024559.1:n.34+1090C>T (MAPT-AS1) |