Linked Data
dbSNP Id:
rs993035581
gnomAD v2:
4-52904480-G-T
gnomAD v3:
4-52038314-G-T
gnomAD v4:
4-52038314-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038314G>T , CM000666.2:g.52038314G>T | GRCh38 |
| NC_000004.11:g.52904480G>T , CM000666.1:g.52904480G>T | GRCh37 |
| NC_000004.10:g.52599237G>T | NCBI36 |
| NG_008891.1:g.5006C>A , LRG_204:g.5006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-55C>A | ENSP00000370839.5:n.-55C>A | |
| NM_000232.4:c.-55C>A , LRG_204t1:c.-55C>A | NP_000223.1:n.-55C>A |