Linked Data
dbSNP Id:
rs567908336
gnomAD v2:
11-94255301-C-T
gnomAD v3:
11-94522135-C-T
gnomAD v4:
11-94522135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94522135C>T , CM000673.2:g.94522135C>T | GRCh38 |
| NC_000011.9:g.94255301C>T , CM000673.1:g.94255301C>T | GRCh37 |
| NC_000011.8:g.93894949C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542198.3:c.250+4448C>T MANE Select | ENSP00000490577.1:n.250+4448C>T | |
| NM_001190462.1:c.250+4448C>T | NP_001177391.1:n.250+4448C>T | |
| NM_001190462.2:c.250+4448C>T MANE Select | NP_001177391.1:n.250+4448C>T |