Linked Data
dbSNP Id:
rs1855560049
gnomAD v4:
11-6615204-G-A
MyVariant Identifiers:
chr11:g.6636435G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615204G>A , CM000673.2:g.6615204G>A | GRCh38 |
| NC_000011.9:g.6636435G>A , CM000673.1:g.6636435G>A | GRCh37 |
| NC_000011.8:g.6593011G>A | NCBI36 |
| NG_008653.1:g.9258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1278C>T | ENSP00000507321.1:p.Asn426= | |
| ENST00000299427.12:c.1392C>T MANE Select | ENSP00000299427.6:p.Asn464= | |
| ENST00000524611.2:n.252C>T | ||
| ENST00000524924.2:n.512C>T | ||
| ENST00000533371.6:c.663C>T | ENSP00000437066.1:p.Asn221= | |
| ENST00000642892.1:c.663C>T | ENSP00000494165.1:p.Asn221= | |
| ENST00000643342.1:c.465C>T | ||
| ENST00000643439.1:c.*1132C>T | ENSP00000495849.1:n.*1132C>T | |
| ENST00000643479.1:n.1578C>T | ||
| ENST00000643516.1:c.901C>T | ||
| ENST00000644218.1:c.1203C>T | ENSP00000493574.1:p.Asn401= | |
| ENST00000644683.1:c.*845C>T | ENSP00000494085.1:n.*845C>T | |
| ENST00000644810.1:c.1113C>T | ENSP00000495895.1:p.Asn371= | |
| ENST00000644831.1:n.1568C>T | ||
| ENST00000644933.1:c.*258C>T | ENSP00000496133.1:n.*258C>T | |
| ENST00000645285.1:c.*258C>T | ENSP00000495058.1:n.*258C>T | |
| ENST00000645331.1:n.2597C>T | ||
| ENST00000645620.1:c.663C>T | ENSP00000493657.1:p.Asn221= | |
| ENST00000646691.1:n.1279C>T | ||
| ENST00000646777.1:n.1725C>T | ||
| ENST00000647016.1:n.1872C>T | ||
| ENST00000647152.1:c.663C>T | ENSP00000495893.1:p.Asn221= | |
| ENST00000647209.1:c.*1261C>T | ENSP00000495558.1:n.*1261C>T | |
| ENST00000647346.1:n.2412C>T | ||
| ENST00000299427.10:c.1392C>T | ENSP00000299427.6:p.Asn464= | |
| ENST00000524611.1:n.270C>T | ||
| ENST00000533371.5:c.663C>T | ENSP00000437066.1:p.Asn221= | |
| ENST00000611494.4:c.1392C>T | ENSP00000484546.1:p.Asn464= | |
| NM_000391.3:c.1392C>T | NP_000382.3:p.Asn464= | |
| NM_000391.4:c.1392C>T MANE Select | NP_000382.3:p.Asn464= |