Linked Data
dbSNP Id:
rs1390050457
gnomAD v2:
11-2466237-C-T
gnomAD v3:
11-2445007-C-T
gnomAD v4:
11-2445007-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445007C>T , CM000673.2:g.2445007C>T | GRCh38 |
| NC_000011.9:g.2466237C>T , CM000673.1:g.2466237C>T | GRCh37 |
| NC_000011.8:g.2422813C>T | NCBI36 |
| NG_008935.1:g.5017C>T , LRG_287:g.5017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+299C>T | ENSP00000434560.2:n.23+299C>T | |
| ENST00000155840.9:c.-92C>T | ENSP00000155840.2:n.-92C>T | |
| ENST00000496887.6:c.23+299C>T | ENSP00000434560.1:n.23+299C>T | |
| NM_000218.2:c.-92C>T , LRG_287t1:c.-92C>T | NP_000209.2:n.-92C>T |