Linked Data
ClinVar Variation Id:
495970
ClinVar RCV Id:
RCV000586515
dbSNP Id:
rs1554917441
gnomAD v4:
11-5225531-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225531C>A , CM000673.2:g.5225531C>A | GRCh38 |
| NC_000011.9:g.5246761C>A , CM000673.1:g.5246761C>A | GRCh37 |
| NC_000011.8:g.5203337C>A | NCBI36 |
| NG_000007.3:g.72085G>T | |
| NG_059281.1:g.6541G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*67G>T | ENSP00000494175.1:n.*67G>T | |
| ENST00000335295.4:c.*67G>T MANE Select | ENSP00000333994.3:n.*67G>T | |
| ENST00000633227.1:c.*327G>T | ENSP00000488004.1:n.*327G>T | |
| NM_000518.4:c.*67G>T | NP_000509.1:n.*67G>T | |
| NM_000518.5:c.*67G>T MANE Select | NP_000509.1:n.*67G>T |