Linked Data
gnomAD v4:
2-27323100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323100C>T , CM000664.2:g.27323100C>T | GRCh38 |
| NC_000002.11:g.27545967C>T , CM000664.1:g.27545967C>T | GRCh37 |
| NC_000002.10:g.27399471C>T | NCBI36 |
| NG_008075.1:g.4465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1333G>A | ENSP00000349713.6:n.18+1333G>A | |
| ENST00000380044.5:c.-54G>A | ENSP00000369383.1:n.-54G>A | |
| ENST00000405076.5:c.-54G>A | ENSP00000385175.1:n.-54G>A | |
| ENST00000621183.4:n.3G>A | ||
| NM_002437.4:c.-54G>A | NP_002428.1:n.-54G>A | |
| XM_005264327.2:c.-178G>A | XP_005264384.1:n.-178G>A |