Linked Data
ClinVar Variation Id:
416434
ClinVar RCV Id:
RCV000470056
dbSNP Id:
rs121908854
gnomAD v4:
7-21748602-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748602C>A , CM000669.2:g.21748602C>A | GRCh38 |
| NC_000007.13:g.21788220C>A , CM000669.1:g.21788220C>A | GRCh37 |
| NC_000007.12:g.21754745C>A | NCBI36 |
| NG_012886.2:g.210388C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.8533C>A MANE Select | ENSP00000475939.1:p.Arg2845= | |
| ENST00000328843.10:c.8554C>A | ENSP00000330671.7:p.Arg2852= | |
| ENST00000409508.7:c.8533C>A | ENSP00000475939.1:p.Arg2845= | |
| ENST00000620169.4:c.8554C>A | ENSP00000481693.1:p.Arg2852= | |
| NM_001277115.1:c.8533C>A | NP_001264044.1:p.Arg2845= | |
| NM_001277115.2:c.8533C>A MANE Select | NP_001264044.1:p.Arg2845= |