Linked Data
dbSNP Id:
rs114710627
ExAC:
14:103388981 C / T
gnomAD v2:
14-103388981-C-T
gnomAD v3:
14-102922644-C-T
gnomAD v4:
14-102922644-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922644C>T , CM000676.2:g.102922644C>T | GRCh38 |
| NC_000014.8:g.103388981C>T , CM000676.1:g.103388981C>T | GRCh37 |
| NC_000014.7:g.102458734C>T | NCBI36 |
| NG_008276.2:g.4989C>T , LRG_642:g.4989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011537202.1:c.-226C>T | XP_011535504.1:n.-226C>T | |
| XM_011537202.3:c.-226C>T | XP_011535504.1:n.-226C>T | |
| XM_024449714.1:c.52C>T | XP_024305482.1:p.Gln18Ter |