Linked Data
gnomAD v4:
12-49951233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951233G>A , CM000674.2:g.49951233G>A | GRCh38 |
| NC_000012.11:g.50345016G>A , CM000674.1:g.50345016G>A | GRCh37 |
| NC_000012.10:g.48631283G>A | NCBI36 |
| NG_008913.1:g.5493G>A , LRG_717:g.5493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.360+43G>A MANE Select | ENSP00000199280.3:n.360+43G>A | |
| ENST00000199280.3:c.360+43G>A | ENSP00000199280.3:n.360+43G>A | |
| ENST00000550862.1:c.360+43G>A | ENSP00000450022.1:n.360+43G>A | |
| ENST00000551526.5:c.360+43G>A | ENSP00000447148.1:n.360+43G>A | |
| NM_000486.5:c.360+43G>A , LRG_717t1:c.360+43G>A | NP_000477.1:n.360+43G>A | |
| NM_000486.6:c.360+43G>A MANE Select | NP_000477.1:n.360+43G>A |