Linked Data
ClinVar Variation Id:
1494657
ClinVar RCV Id:
RCV001989510
dbSNP Id:
rs760475719
ExAC:
8:10480110 C / T
gnomAD v2:
8-10480110-C-T
gnomAD v4:
8-10622600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622600C>T , CM000670.2:g.10622600C>T | GRCh38 |
| NC_000008.10:g.10480110C>T , CM000670.1:g.10480110C>T | GRCh37 |
| NC_000008.9:g.10517520C>T | NCBI36 |
| NG_028035.1:g.37508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.602G>A MANE Select | ENSP00000371923.3:p.Gly201Glu | |
| ENST00000329335.3:n.852G>A | ||
| ENST00000382483.3:c.602G>A | ENSP00000371923.3:p.Gly201Glu | |
| NM_178857.5:c.602G>A | NP_849188.4:p.Gly201Glu | |
| NM_178857.6:c.602G>A MANE Select | NP_849188.4:p.Gly201Glu |