Linked Data
ClinVar Variation Id:
454663
ClinVar RCV Id:
RCV000545538
dbSNP Id:
rs1554312483
gnomAD v4:
7-21571974-G-A
COSMIC:
COSM374562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571974G>A , CM000669.2:g.21571974G>A | GRCh38 |
| NC_000007.13:g.21611592G>A , CM000669.1:g.21611592G>A | GRCh37 |
| NC_000007.12:g.21578117G>A | NCBI36 |
| NG_012886.2:g.33760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1593+1G>A MANE Select | ENSP00000475939.1:n.1593+1G>A | |
| ENST00000328843.10:c.1593+1G>A | ENSP00000330671.7:n.1593+1G>A | |
| ENST00000409508.7:c.1593+1G>A | ENSP00000475939.1:n.1593+1G>A | |
| ENST00000620169.4:c.1593+1G>A | ENSP00000481693.1:n.1593+1G>A | |
| NM_001277115.1:c.1593+1G>A | NP_001264044.1:n.1593+1G>A | |
| XR_927090.1:n.563+1352C>T | ||
| XR_001745114.1:n.2793+1352C>T | ||
| NM_001277115.2:c.1593+1G>A MANE Select | NP_001264044.1:n.1593+1G>A |