Linked Data
ClinVar Variation Id:
16221
ClinVar RCV Id:
RCV000017608
dbSNP Id:
rs121909667
gnomAD v2:
16-31202729-C-G
gnomAD v4:
16-31191408-C-G
PubMed:
PMID:19251627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191408C>G , CM000678.2:g.31191408C>G | GRCh38 |
| NC_000016.9:g.31202729C>G , CM000678.1:g.31202729C>G | GRCh37 |
| NC_000016.8:g.31110230C>G | NCBI36 |
| NG_012889.2:g.16277C>G , LRG_655:g.16277C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1551C>G MANE Select | ENSP00000254108.8:p.His517Gln | |
| ENST00000254108.11:c.1551C>G | ENSP00000254108.7:p.His517Gln | |
| ENST00000380244.7:c.1548C>G | ENSP00000369594.3:p.His516Gln | |
| ENST00000483853.1:n.628C>G | ||
| ENST00000487509.6:n.4726C>G | ||
| ENST00000566605.5:c.*724C>G | ENSP00000455073.1:n.*724C>G | |
| ENST00000568685.1:c.1554C>G | ENSP00000455282.1:p.His518Gln | |
| ENST00000569760.5:n.442C>G | ||
| NM_001170634.1:c.1548C>G | NP_001164105.1:p.His516Gln | |
| NM_001170937.1:c.1539C>G | NP_001164408.1:p.His513Gln | |
| NM_004960.3:c.1551C>G , LRG_655t1:c.1551C>G | NP_004951.1:p.His517Gln | |
| NR_028388.2:n.1621C>G | ||
| XM_005255233.3:c.936C>G | XP_005255290.1:p.His312Gln | |
| XM_011545781.1:c.1545C>G | XP_011544083.1:p.His515Gln | |
| XM_011545782.1:c.936C>G | XP_011544084.1:p.His312Gln | |
| XM_005255233.5:c.936C>G | XP_005255290.1:p.His312Gln | |
| XM_011545782.2:c.936C>G | XP_011544084.1:p.His312Gln | |
| XM_024450221.1:c.1542C>G | XP_024305989.1:p.His514Gln | |
| NM_004960.4:c.1551C>G MANE Select | NP_004951.1:p.His517Gln |