Linked Data
dbSNP Id:
rs750892689
ExAC:
12:116413145 G / C
gnomAD v2:
12-116413145-G-C
gnomAD v4:
12-115975340-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975340G>C , CM000674.2:g.115975340G>C | GRCh38 |
| NC_000012.11:g.116413145G>C , CM000674.1:g.116413145G>C | GRCh37 |
| NC_000012.10:g.114897528G>C | NCBI36 |
| NG_023366.1:g.306847C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5589-27C>G MANE Select | ENSP00000281928.3:n.5589-27C>G | |
| ENST00000548694.2:n.552C>G | ||
| ENST00000648379.1:n.3957-27C>G | ||
| ENST00000648737.1:n.5353-27C>G | ||
| ENST00000648825.1:n.3774-27C>G | ||
| ENST00000648916.1:n.3600-27C>G | ||
| ENST00000649607.1:c.3773-27C>G | ||
| ENST00000649775.1:c.2078-27C>G | ||
| ENST00000650226.1:c.5598C>G | ENSP00000496981.1:p.Phe1866Leu | |
| ENST00000281928.7:c.5589-27C>G | ENSP00000281928.3:n.5589-27C>G | |
| ENST00000548694.1:n.552C>G | ||
| ENST00000552447.1:c.175C>G | ||
| NM_015335.4:c.5589-27C>G | NP_056150.1:n.5589-27C>G | |
| XM_011538080.1:c.5598C>G | XP_011536382.1:p.Phe1866Leu | |
| XM_011538081.1:c.5595C>G | XP_011536383.1:p.Phe1865Leu | |
| XM_011538082.1:c.5568C>G | XP_011536384.1:p.Phe1856Leu | |
| XM_011538080.2:c.5598C>G | XP_011536382.1:p.Phe1866Leu | |
| XM_011538081.2:c.5595C>G | XP_011536383.1:p.Phe1865Leu | |
| XM_011538082.2:c.5568C>G | XP_011536384.1:p.Phe1856Leu | |
| XM_017019090.1:c.5586-27C>G | XP_016874579.1:n.5586-27C>G | |
| NM_015335.5:c.5589-27C>G MANE Select | NP_056150.1:n.5589-27C>G |