Linked Data
dbSNP Id:
rs756379978
ExAC:
16:1412217 C / G
gnomAD v2:
16-1412217-C-G
gnomAD v4:
16-1362216-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362216C>G , CM000678.2:g.1362216C>G | GRCh38 |
| NC_000016.9:g.1412217C>G , CM000678.1:g.1412217C>G | GRCh37 |
| NC_000016.8:g.1352218C>G | NCBI36 |
| NG_016985.1:g.15318C>G | |
| NG_033129.1:g.57489G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.521C>G | ||
| ENST00000529110.2:c.506C>G | ENSP00000435349.2:p.Ala169Gly | |
| ENST00000529957.6:n.480C>G | ||
| ENST00000683366.1:c.*154C>G | ENSP00000507283.1:n.*154C>G | |
| ENST00000683887.1:c.470C>G | ENSP00000506886.1:p.Ala157Gly | |
| ENST00000684100.1:n.416C>G | ||
| ENST00000684126.1:n.480C>G | ||
| ENST00000684688.1:n.1047C>G | ||
| ENST00000204679.9:c.422C>G MANE Select | ENSP00000204679.4:p.Ala141Gly | |
| ENST00000204679.8:c.422C>G | ENSP00000204679.4:p.Ala141Gly | |
| ENST00000527076.1:n.1438C>G | ||
| ENST00000527168.5:n.458C>G | ||
| ENST00000529110.1:c.489C>G | ||
| ENST00000529957.5:n.521C>G | ||
| NM_032520.4:c.422C>G | NP_115909.1:p.Ala141Gly | |
| XM_017023782.1:c.470C>G | XP_016879271.1:p.Ala157Gly | |
| XM_017023783.1:c.62C>G | XP_016879272.1:p.Ala21Gly | |
| NM_032520.5:c.422C>G MANE Select | NP_115909.1:p.Ala141Gly |