Linked Data
gnomAD v4:
3-184135358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135358G>A , CM000665.2:g.184135358G>A | GRCh38 |
| NC_000003.11:g.183853146G>A , CM000665.1:g.183853146G>A | GRCh37 |
| NC_000003.10:g.185335840G>A | NCBI36 |
| NG_015826.1:g.5337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471832.2:c.-28G>A | ENSP00000497786.1:n.-28G>A | |
| ENST00000648314.1:c.-28G>A | ENSP00000496920.1:n.-28G>A | |
| ENST00000648915.2:c.-28G>A MANE Select | ENSP00000497160.1:n.-28G>A | |
| ENST00000649814.1:n.22G>A | ||
| ENST00000273783.7:c.-28G>A | ENSP00000273783.3:n.-28G>A | |
| ENST00000491144.5:n.321G>A | ||
| NM_003907.2:c.-28G>A | NP_003898.2:n.-28G>A | |
| XR_924208.1:n.924G>A | ||
| NM_003907.3:c.-28G>A MANE Select | NP_003898.2:n.-28G>A | |
| XR_001740352.2:n.336G>A | ||
| XR_001740353.2:n.336G>A | ||
| XR_924208.2:n.336G>A |