Linked Data
ClinVar Variation Id:
2797720
ClinVar RCV Id:
RCV003673366
COSMIC:
COSM4945153
MyVariant Identifiers:
chr16:g.1412864A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362863A>G , CM000678.2:g.1362863A>G | GRCh38 |
| NC_000016.9:g.1412864A>G , CM000678.1:g.1412864A>G | GRCh37 |
| NC_000016.8:g.1352865A>G | NCBI36 |
| NG_016985.1:g.15965A>G | |
| NG_033129.1:g.56842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.879A>G | ||
| ENST00000529110.2:c.864A>G | ENSP00000435349.2:p.Lys288= | |
| ENST00000529957.6:n.838A>G | ||
| ENST00000683366.1:c.*512A>G | ENSP00000507283.1:n.*512A>G | |
| ENST00000683887.1:c.828A>G | ENSP00000506886.1:p.Lys276= | |
| ENST00000684100.1:n.774A>G | ||
| ENST00000684126.1:n.914A>G | ||
| ENST00000684688.1:n.1405A>G | ||
| ENST00000204679.9:c.780A>G MANE Select | ENSP00000204679.4:p.Lys260= | |
| ENST00000204679.8:c.780A>G | ENSP00000204679.4:p.Lys260= | |
| ENST00000527076.1:n.2003A>G | ||
| ENST00000527168.5:n.947A>G | ||
| ENST00000529957.5:n.879A>G | ||
| NM_032520.4:c.780A>G | NP_115909.1:p.Lys260= | |
| XM_017023782.1:c.828A>G | XP_016879271.1:p.Lys276= | |
| XM_017023783.1:c.420A>G | XP_016879272.1:p.Lys140= | |
| NM_032520.5:c.780A>G MANE Select | NP_115909.1:p.Lys260= |