Linked Data
gnomAD v4:
5-146339504-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339504A>G , CM000667.2:g.146339504A>G | GRCh38 |
| NC_000005.9:g.145719067A>G , CM000667.1:g.145719067A>G | GRCh37 |
| NC_000005.8:g.145699260A>G | NCBI36 |
| NG_011885.1:g.5481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.121-44A>G MANE Select | ENSP00000495718.1:n.121-44A>G | |
| ENST00000230732.4:c.121-44A>G | ENSP00000230732.4:n.121-44A>G | |
| NM_002700.2:c.121-44A>G | NP_002691.1:n.121-44A>G | |
| NM_002700.3:c.121-44A>G MANE Select | NP_002691.1:n.121-44A>G |