Linked Data
dbSNP Id:
rs1031547761
gnomAD v2:
18-661963-C-T
gnomAD v3:
18-661963-C-T
gnomAD v4:
18-661963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.661963C>T , CM000680.2:g.661963C>T | GRCh38 |
| NC_000018.9:g.661963C>T , CM000680.1:g.661963C>T | GRCh37 |
| NC_000018.8:g.651963C>T | NCBI36 |
| NG_028255.1:g.9360C>T , LRG_783:g.9360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323274.15:c.280-183C>T MANE Select | ENSP00000315644.10:n.280-183C>T | |
| ENST00000323224.7:c.280-183C>T | ENSP00000314727.7:n.280-183C>T | |
| ENST00000323250.9:c.205+4016C>T | ENSP00000314902.5:n.205+4016C>T | |
| ENST00000323274.14:c.280-183C>T | ENSP00000315644.10:n.280-183C>T | |
| ENST00000579128.1:n.358-183C>T | ||
| NM_001071.2:c.280-183C>T , LRG_783t1:c.280-183C>T | NP_001062.1:n.280-183C>T | |
| NM_001071.3:c.280-183C>T | NP_001062.1:n.280-183C>T | |
| NM_001354867.1:c.280-183C>T | NP_001341796.1:n.280-183C>T | |
| NM_001354868.1:c.205+4016C>T | NP_001341797.1:n.205+4016C>T | |
| NM_001071.4:c.280-183C>T MANE Select | NP_001062.1:n.280-183C>T | |
| NM_001354867.2:c.280-183C>T | NP_001341796.1:n.280-183C>T | |
| NM_001354868.2:c.205+4016C>T | NP_001341797.1:n.205+4016C>T |