Linked Data
gnomAD v4:
2-27323099-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323099C>A , CM000664.2:g.27323099C>A | GRCh38 |
| NC_000002.11:g.27545966C>A , CM000664.1:g.27545966C>A | GRCh37 |
| NC_000002.10:g.27399470C>A | NCBI36 |
| NG_008075.1:g.4466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1334G>T | ENSP00000349713.6:n.18+1334G>T | |
| ENST00000380044.5:c.-53G>T | ENSP00000369383.1:n.-53G>T | |
| ENST00000405076.5:c.-53G>T | ENSP00000385175.1:n.-53G>T | |
| ENST00000621183.4:n.4G>T | ||
| NM_002437.4:c.-53G>T | NP_002428.1:n.-53G>T | |
| XM_005264327.2:c.-177G>T | XP_005264384.1:n.-177G>T |