Linked Data
ClinVar Variation Id:
304213
dbSNP Id:
rs886048160
gnomAD v3:
11-2445061-C-T
gnomAD v4:
11-2445061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445061C>T , CM000673.2:g.2445061C>T | GRCh38 |
| NC_000011.9:g.2466291C>T , CM000673.1:g.2466291C>T | GRCh37 |
| NC_000011.8:g.2422867C>T | NCBI36 |
| NG_008935.1:g.5071C>T , LRG_287:g.5071C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-322C>T | ENSP00000434560.2:n.24-322C>T | |
| ENST00000646564.2:c.-38C>T | ENSP00000495806.2:n.-38C>T | |
| ENST00000155840.12:c.-38C>T MANE Select | ENSP00000155840.2:n.-38C>T | |
| ENST00000155840.9:c.-38C>T | ENSP00000155840.2:n.-38C>T | |
| ENST00000496887.6:c.24-322C>T | ENSP00000434560.1:n.24-322C>T | |
| NM_000218.2:c.-38C>T , LRG_287t1:c.-38C>T | NP_000209.2:n.-38C>T | |
| NM_000218.3:c.-38C>T MANE Select | NP_000209.2:n.-38C>T |