Linked Data
ClinVar Variation Id:
2809120
ClinVar RCV Id:
RCV003677334
MyVariant Identifiers:
chr16:g.1412308C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362307C>G , CM000678.2:g.1362307C>G | GRCh38 |
| NC_000016.9:g.1412308C>G , CM000678.1:g.1412308C>G | GRCh37 |
| NC_000016.8:g.1352309C>G | NCBI36 |
| NG_016985.1:g.15409C>G | |
| NG_033129.1:g.57398G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.612C>G | ||
| ENST00000529110.2:c.597C>G | ENSP00000435349.2:p.Pro199= | |
| ENST00000529957.6:n.571C>G | ||
| ENST00000683366.1:c.*245C>G | ENSP00000507283.1:n.*245C>G | |
| ENST00000683887.1:c.561C>G | ENSP00000506886.1:p.Pro187= | |
| ENST00000684100.1:n.507C>G | ||
| ENST00000684126.1:n.571C>G | ||
| ENST00000684688.1:n.1138C>G | ||
| ENST00000204679.9:c.513C>G MANE Select | ENSP00000204679.4:p.Pro171= | |
| ENST00000204679.8:c.513C>G | ENSP00000204679.4:p.Pro171= | |
| ENST00000527076.1:n.1529C>G | ||
| ENST00000527168.5:n.549C>G | ||
| ENST00000529957.5:n.612C>G | ||
| NM_032520.4:c.513C>G | NP_115909.1:p.Pro171= | |
| XM_017023782.1:c.561C>G | XP_016879271.1:p.Pro187= | |
| XM_017023783.1:c.153C>G | XP_016879272.1:p.Pro51= | |
| NM_032520.5:c.513C>G MANE Select | NP_115909.1:p.Pro171= |