Linked Data
ClinVar Variation Id:
762366
ClinVar RCV Id:
RCV000940505
dbSNP Id:
rs1420315178
gnomAD v2:
11-6637920-G-A
gnomAD v4:
11-6616689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616689G>A , CM000673.2:g.6616689G>A | GRCh38 |
| NC_000011.9:g.6637920G>A , CM000673.1:g.6637920G>A | GRCh37 |
| NC_000011.8:g.6594496G>A | NCBI36 |
| NG_008653.1:g.7773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.744C>T | ENSP00000507321.1:p.Asn248= | |
| ENST00000299427.12:c.858C>T MANE Select | ENSP00000299427.6:p.Asn286= | |
| ENST00000436873.7:c.312+612C>T | ||
| ENST00000524788.2:n.2017C>T | ||
| ENST00000524903.2:n.2133C>T | ||
| ENST00000528807.2:n.514C>T | ||
| ENST00000530040.2:n.480-186C>T | ||
| ENST00000533371.6:c.129C>T | ENSP00000437066.1:p.Asn43= | |
| ENST00000642892.1:c.129C>T | ENSP00000494165.1:p.Asn43= | |
| ENST00000643439.1:c.*598C>T | ENSP00000495849.1:n.*598C>T | |
| ENST00000643479.1:n.887C>T | ||
| ENST00000643516.1:c.396-186C>T | ||
| ENST00000644151.1:n.2297C>T | ||
| ENST00000644218.1:c.858C>T | ENSP00000493574.1:p.Asn286= | |
| ENST00000644683.1:c.*311C>T | ENSP00000494085.1:n.*311C>T | |
| ENST00000644810.1:c.579C>T | ENSP00000495895.1:p.Asn193= | |
| ENST00000644831.1:n.1034C>T | ||
| ENST00000644933.1:c.129C>T | ENSP00000496133.1:p.Asn43= | |
| ENST00000645020.1:n.2148C>T | ||
| ENST00000645285.1:c.129C>T | ENSP00000495058.1:p.Asn43= | |
| ENST00000645331.1:n.1224C>T | ||
| ENST00000645620.1:c.129C>T | ENSP00000493657.1:p.Asn43= | |
| ENST00000646777.1:n.1034C>T | ||
| ENST00000647016.1:n.1338C>T | ||
| ENST00000647152.1:c.129C>T | ENSP00000495893.1:p.Asn43= | |
| ENST00000647209.1:c.*727C>T | ENSP00000495558.1:n.*727C>T | |
| ENST00000647346.1:n.1878C>T | ||
| ENST00000299427.10:c.858C>T | ENSP00000299427.6:p.Asn286= | |
| ENST00000436873.6:c.451-186C>T | ENSP00000398136.2:n.451-186C>T | |
| ENST00000528807.1:n.408C>T | ||
| ENST00000533371.5:c.129C>T | ENSP00000437066.1:p.Asn43= | |
| ENST00000611494.4:c.858C>T | ENSP00000484546.1:p.Asn286= | |
| NM_000391.3:c.858C>T | NP_000382.3:p.Asn286= | |
| NM_000391.4:c.858C>T MANE Select | NP_000382.3:p.Asn286= |