Linked Data
ClinVar Variation Id:
208382
ClinVar RCV Id:
RCV000202338
dbSNP Id:
rs863223346
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38876091G>A , CM000675.2:g.38876091G>A | GRCh38 |
| NC_000013.10:g.39450228G>A , CM000675.1:g.39450228G>A | GRCh37 |
| NC_000013.9:g.38348228G>A | NCBI36 |
| NG_008125.2:g.194056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.8351G>A MANE Select | ENSP00000280481.7:p.Arg2784Lys | |
| ENST00000280481.8:c.8351G>A | ENSP00000280481.7:p.Arg2784Lys | |
| NM_207361.5:c.8351G>A | NP_997244.4:p.Arg2784Lys | |
| NM_207361.6:c.8351G>A MANE Select | NP_997244.4:p.Arg2784Lys |