Linked Data
ClinVar Variation Id:
1097432
ClinVar RCV Id:
RCV001419035
dbSNP Id:
rs1475864409
gnomAD v2:
1-17349205-G-A
gnomAD v3:
1-17022710-G-A
gnomAD v4:
1-17022710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022710G>A , CM000663.2:g.17022710G>A | GRCh38 |
| NC_000001.10:g.17349205G>A , CM000663.1:g.17349205G>A | GRCh37 |
| NC_000001.9:g.17221792G>A | NCBI36 |
| NG_012340.1:g.36461C>T , LRG_316:g.36461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.492C>T | ENSP00000481376.2:p.Asp164= | |
| ENST00000491274.6:c.621C>T | ENSP00000480482.2:p.Asp207= | |
| ENST00000375499.8:c.663C>T MANE Select | ENSP00000364649.3:p.Asp221= | |
| ENST00000375499.7:c.663C>T | ENSP00000364649.3:p.Asp221= | |
| ENST00000475049.5:n.88C>T | ||
| ENST00000485092.5:n.327C>T | ||
| ENST00000485515.5:n.597C>T | ||
| NM_003000.2:c.663C>T , LRG_316t1:c.663C>T | NP_002991.2:p.Asp221= | |
| NM_003000.3:c.663C>T MANE Select | NP_002991.2:p.Asp221= |