Linked Data
gnomAD v4:
2-182838392-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838392C>A , CM000664.2:g.182838392C>A | GRCh38 |
| NC_000002.11:g.183703120C>A , CM000664.1:g.183703120C>A | GRCh37 |
| NC_000002.10:g.183411365C>A | NCBI36 |
| NG_017197.1:g.33379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.797+17G>T MANE Select | ENSP00000295113.4:n.797+17G>T | |
| ENST00000295113.4:c.797+17G>T | ENSP00000295113.4:n.797+17G>T | |
| NM_001463.3:c.797+17G>T | NP_001454.2:n.797+17G>T | |
| NM_001463.4:c.797+17G>T MANE Select | NP_001454.2:n.797+17G>T |