Linked Data
ClinVar Variation Id:
189225
dbSNP Id:
rs786204773
gnomAD v3:
17-4899386-T-A
gnomAD v4:
17-4899386-T-A
PubMed:
PMID:16550914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899386T>A , CM000679.2:g.4899386T>A | GRCh38 |
| NC_000017.10:g.4802681T>A , CM000679.1:g.4802681T>A | GRCh37 |
| NC_000017.9:g.4743460T>A | NCBI36 |
| NG_008029.2:g.8690A>T | |
| NG_028005.1:g.71047T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.1033-2A>T MANE Select | ENSP00000497829.1:n.1033-2A>T | |
| ENST00000649830.1:c.100-2A>T | ENSP00000496907.1:n.100-2A>T | |
| ENST00000652550.1:n.763-2A>T | ||
| ENST00000293780.4:c.1033-2A>T | ENSP00000293780.4:n.1033-2A>T | |
| ENST00000572438.1:n.719-2A>T | ||
| NM_000080.3:c.1033-2A>T | NP_000071.1:n.1033-2A>T | |
| NM_000080.4:c.1033-2A>T MANE Select | NP_000071.1:n.1033-2A>T | |
| XM_017024115.1:c.997-2A>T | XP_016879604.1:n.997-2A>T | |
| XR_001752421.1:n.1763-2A>T |