Linked Data
ClinVar Variation Id:
333045
dbSNP Id:
rs41265575
gnomAD v2:
2-189839136-G-A
gnomAD v3:
2-188974410-G-A
gnomAD v4:
2-188974410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974410G>A , CM000664.2:g.188974410G>A | GRCh38 |
| NC_000002.11:g.189839136G>A , CM000664.1:g.189839136G>A | GRCh37 |
| NC_000002.10:g.189547381G>A | NCBI36 |
| NG_007404.1:g.5038G>A , LRG_3:g.5038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.-80G>A | ENSP00000415346.2:n.-80G>A | |
| ENST00000304636.9:c.-80G>A MANE Select | ENSP00000304408.4:n.-80G>A | |
| ENST00000304636.7:c.-80G>A | ENSP00000304408.3:n.-80G>A | |
| ENST00000317840.9:c.-80G>A | ENSP00000315243.6:n.-80G>A | |
| ENST00000470167.1:n.17G>A | ||
| NM_000090.3:c.-80G>A , LRG_3t1:c.-80G>A | NP_000081.1:n.-80G>A | |
| XR_923687.1:n.1795-3931C>T | ||
| XR_923688.1:n.1795-3931C>T | ||
| XR_923689.1:n.90-3931C>T | ||
| XR_923689.3:n.85-3931C>T | ||
| NM_000090.4:c.-80G>A MANE Select | NP_000081.2:n.-80G>A |