Linked Data
gnomAD v4:
2-176093633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093633A>G , CM000664.2:g.176093633A>G | GRCh38 |
| NC_000002.11:g.176958361A>G , CM000664.1:g.176958361A>G | GRCh37 |
| NC_000002.10:g.176666607A>G | NCBI36 |
| NG_008137.1:g.5830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.743A>G MANE Select | ENSP00000376322.3:p.Gln248Arg | |
| ENST00000392539.3:c.743A>G | ENSP00000376322.3:p.Gln248Arg | |
| NM_000523.3:c.743A>G | NP_000514.2:p.Gln248Arg | |
| XM_011511068.1:c.725-847A>G | XP_011509370.1:n.725-847A>G | |
| XM_011511068.2:c.725-847A>G | XP_011509370.1:n.725-847A>G | |
| NM_000523.4:c.743A>G MANE Select | NP_000514.2:p.Gln248Arg |