Linked Data
dbSNP Id:
rs1000354591
gnomAD v2:
11-2844352-C-A
gnomAD v3:
11-2823122-C-A
gnomAD v4:
11-2823122-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2823122C>A , CM000673.2:g.2823122C>A | GRCh38 |
| NC_000011.9:g.2844352C>A , CM000673.1:g.2844352C>A | GRCh37 |
| NC_000011.8:g.2800928C>A | NCBI36 |
| NG_008935.1:g.383132C>A , LRG_287:g.383132C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1438-24645C>A | ENSP00000434560.2:n.1438-24645C>A | |
| ENST00000646564.2:c.1255-16594C>A | ENSP00000495806.2:n.1255-16594C>A | |
| ENST00000155840.12:c.1795-24645C>A MANE Select | ENSP00000155840.2:n.1795-24645C>A | |
| ENST00000335475.6:c.1414-24645C>A | ENSP00000334497.5:n.1414-24645C>A | |
| ENST00000526095.2:c.199-24645C>A | ENSP00000494939.1:n.199-24645C>A | |
| ENST00000646564.1:c.901-16594C>A | ENSP00000495806.1:n.901-16594C>A | |
| ENST00000155840.9:c.1795-24645C>A | ENSP00000155840.2:n.1795-24645C>A | |
| ENST00000335475.5:c.1414-24645C>A | ENSP00000334497.5:n.1414-24645C>A | |
| ENST00000526095.1:n.302-24645C>A | ||
| NM_000218.2:c.1795-24645C>A , LRG_287t1:c.1795-24645C>A | NP_000209.2:n.1795-24645C>A | |
| NM_181798.1:c.1414-24645C>A , LRG_287t2:c.1414-24645C>A | NP_861463.1:n.1414-24645C>A | |
| NM_000218.3:c.1795-24645C>A MANE Select | NP_000209.2:n.1795-24645C>A |