Linked Data
ClinVar Variation Id:
363202
ClinVar RCV Id:
RCV000377812
dbSNP Id:
rs886062970
gnomAD v2:
8-48873358-C-A
gnomAD v3:
8-47960798-C-A
gnomAD v4:
8-47960798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960798C>A , CM000670.2:g.47960798C>A | GRCh38 |
| NC_000008.10:g.48873358C>A , CM000670.1:g.48873358C>A | GRCh37 |
| NC_000008.9:g.49035911C>A | NCBI36 |
| NG_023435.1:g.4386G>T , LRG_162:g.4386G>T | |
| NG_032967.1:g.5596C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-14-333C>A | ENSP00000430329.1:n.-14-333C>A | |
| NM_005914.3:c.-347C>A | NP_005905.2:n.-347C>A | |
| NM_182746.2:c.-231C>A | NP_877423.1:n.-231C>A | |
| XM_005251234.1:c.-593C>A | XP_005251291.1:n.-593C>A |