Linked Data
ClinVar Variation Id:
925390
ClinVar RCV Id:
RCV001187273
dbSNP Id:
rs757422353
ExAC:
16:68857335 C / G
gnomAD v2:
16-68857335-C-G
gnomAD v4:
16-68823432-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823432C>G , CM000678.2:g.68823432C>G | GRCh38 |
| NC_000016.9:g.68857335C>G , CM000678.1:g.68857335C>G | GRCh37 |
| NC_000016.8:g.67414836C>G | NCBI36 |
| NG_008021.1:g.91141C>G , LRG_301:g.91141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1970C>G MANE Select | ENSP00000261769.4:p.Ala657Gly | |
| ENST00000261769.9:c.1970C>G | ENSP00000261769.4:p.Ala657Gly | |
| ENST00000422392.6:c.1787C>G | ENSP00000414946.2:p.Ala596Gly | |
| ENST00000562118.1:n.188C>G | ||
| ENST00000562836.5:n.2041C>G | ||
| ENST00000566510.5:c.*636C>G | ENSP00000458139.1:n.*636C>G | |
| ENST00000566612.5:c.*210C>G | ENSP00000454782.1:n.*210C>G | |
| ENST00000611625.4:c.2033C>G | ENSP00000481063.1:p.Ala678Gly | |
| ENST00000612417.4:c.1830+1313C>G | ENSP00000478360.1:n.1830+1313C>G | |
| ENST00000621016.4:c.1865+1278C>G | ENSP00000480664.1:n.1865+1278C>G | |
| NM_004360.3:c.1970C>G , LRG_301t1:c.1970C>G | NP_004351.1:p.Ala657Gly | |
| XM_011523488.1:c.1235C>G | XP_011521790.1:p.Ala412Gly | |
| XM_011523489.1:c.1235C>G | XP_011521791.1:p.Ala412Gly | |
| NM_001317184.1:c.1787C>G | NP_001304113.1:p.Ala596Gly | |
| NM_001317185.1:c.422C>G | NP_001304114.1:p.Ala141Gly | |
| NM_001317186.1:c.5C>G | NP_001304115.1:p.Ala2Gly | |
| NM_004360.4:c.1970C>G | NP_004351.1:p.Ala657Gly | |
| NM_004360.5:c.1970C>G MANE Select | NP_004351.1:p.Ala657Gly | |
| NM_001317184.2:c.1787C>G | NP_001304113.1:p.Ala596Gly | |
| NM_001317185.2:c.422C>G | NP_001304114.1:p.Ala141Gly | |
| NM_001317186.2:c.5C>G | NP_001304115.1:p.Ala2Gly |