Linked Data
ClinVar Variation Id:
6084
ClinVar RCV Id:
RCV000006457
dbSNP Id:
rs137853024
ExAC:
17:7976996 G / T
gnomAD v2:
17-7976996-G-T
gnomAD v4:
17-8073678-G-T
PubMed:
PMID:11773004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073678G>T , CM000679.2:g.8073678G>T | GRCh38 |
| NC_000017.10:g.7976996G>T , CM000679.1:g.7976996G>T | GRCh37 |
| NC_000017.9:g.7917721G>T | NCBI36 |
| NG_007099.1:g.19026C>A | |
| NG_007099.2:g.19039C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647874.1:c.1734C>A MANE Select | ENSP00000497784.1:p.His578Gln | |
| ENST00000649809.1:c.798C>A | ENSP00000496845.1:p.His266Gln | |
| ENST00000650441.1:n.157C>A | ||
| ENST00000319144.4:c.1734C>A | ENSP00000315167.4:p.His578Gln | |
| ENST00000577351.5:n.480-360C>A | ||
| NM_001139.2:c.1734C>A | NP_001130.1:p.His578Gln | |
| NM_001139.3:c.1734C>A MANE Select | NP_001130.1:p.His578Gln |