Linked Data
ClinVar Variation Id:
356745
ClinVar RCV Id:
RCV000303237
RCV000304416
RCV000334298
RCV000361524
RCV000395085
RCV000406284
RCV003311779
dbSNP Id:
rs41273818
gnomAD v2:
6-42664468-C-T
gnomAD v3:
6-42696730-C-T
gnomAD v4:
6-42696730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42696730C>T , CM000668.2:g.42696730C>T | GRCh38 |
| NC_000006.11:g.42664468C>T , CM000668.1:g.42664468C>T | GRCh37 |
| NC_000006.10:g.42772446C>T | NCBI36 |
| NG_009176.1:g.30891G>A | |
| NG_009176.2:g.30891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.*1565G>A MANE Select | ENSP00000230381.5:n.*1565G>A | |
| ENST00000230381.6:c.*1565G>A | ENSP00000230381.5:n.*1565G>A | |
| NM_000322.4:c.*1565G>A | NP_000313.2:n.*1565G>A | |
| XR_926295.3:n.3493G>A | ||
| NM_000322.5:c.*1565G>A MANE Select | NP_000313.2:n.*1565G>A |