Linked Data
dbSNP Id:
rs1378130288
gnomAD v3:
10-17849810-G-A
gnomAD v4:
10-17849810-G-A
MyVariant Identifiers:
chr10:g.17849810G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17849810G>A , CM000672.2:g.17849810G>A | GRCh38 |
| NG_047011.1:g.45468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000569591.3:c.1249+46G>A MANE Select | ENSP00000455897.1:n.1249+46G>A | |
| ENST00000569591.2:c.1249+46G>A | ENSP00000455897.1:n.1249+46G>A | |
| NM_002438.3:c.1249+46G>A | NP_002429.1:n.1249+46G>A | |
| NM_002438.4:c.1249+46G>A MANE Select | NP_002429.1:n.1249+46G>A |