Linked Data
ClinVar Variation Id:
189224
ClinVar RCV Id:
RCV000169649
dbSNP Id:
rs201101343
ExAC:
5:78076372 T / C
gnomAD v2:
5-78076372-T-C
gnomAD v3:
5-78780549-T-C
gnomAD v4:
5-78780549-T-C
PubMed:
PMID:14974081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780549T>C , CM000667.2:g.78780549T>C | GRCh38 |
| NC_000005.9:g.78076372T>C , CM000667.1:g.78076372T>C | GRCh37 |
| NC_000005.8:g.78112128T>C | NCBI36 |
| NG_007089.1:g.210986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1450A>G MANE Select | ENSP00000264914.4:p.Arg484Gly | |
| ENST00000264914.8:c.1450A>G | ENSP00000264914.4:p.Arg484Gly | |
| ENST00000521011.1:n.415A>G | ||
| NM_000046.3:c.1450A>G | NP_000037.2:p.Arg484Gly | |
| XM_011543390.1:c.1450A>G | XP_011541692.1:p.Arg484Gly | |
| NM_000046.4:c.1450A>G | NP_000037.2:p.Arg484Gly | |
| NM_000046.5:c.1450A>G MANE Select | NP_000037.2:p.Arg484Gly |