Linked Data
ClinVar Variation Id:
410782
ClinVar RCV Id:
RCV000459116
dbSNP Id:
rs1060503041
gnomAD v4:
7-21748743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748743G>A , CM000669.2:g.21748743G>A | GRCh38 |
| NC_000007.13:g.21788361G>A , CM000669.1:g.21788361G>A | GRCh37 |
| NC_000007.12:g.21754886G>A | NCBI36 |
| NG_012886.2:g.210529G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.8673+1G>A MANE Select | ENSP00000475939.1:n.8673+1G>A | |
| ENST00000328843.10:c.8694+1G>A | ENSP00000330671.7:n.8694+1G>A | |
| ENST00000409508.7:c.8673+1G>A | ENSP00000475939.1:n.8673+1G>A | |
| ENST00000620169.4:c.8694+1G>A | ENSP00000481693.1:n.8694+1G>A | |
| NM_001277115.1:c.8673+1G>A | NP_001264044.1:n.8673+1G>A | |
| NM_001277115.2:c.8673+1G>A MANE Select | NP_001264044.1:n.8673+1G>A |