Linked Data
gnomAD v4:
5-97014947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.97014947A>G , CM000667.2:g.97014947A>G | GRCh38 |
| NC_000005.9:g.96350651A>G , CM000667.1:g.96350651A>G | GRCh37 |
| NC_000005.8:g.96376407A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231368.10:c.2228A>G MANE Select | ENSP00000231368.5:p.Lys743Arg | |
| ENST00000231368.9:c.2228A>G | ENSP00000231368.5:p.Lys743Arg | |
| ENST00000395770.3:c.2186A>G | ENSP00000379117.3:p.Lys729Arg | |
| NM_005575.2:c.2228A>G | NP_005566.2:p.Lys743Arg | |
| NM_175920.3:c.2186A>G | NP_787116.2:p.Lys729Arg | |
| XM_024446045.1:c.2228A>G | XP_024301813.1:p.Lys743Arg | |
| NM_005575.3:c.2228A>G MANE Select | NP_005566.2:p.Lys743Arg | |
| NM_175920.4:c.2186A>G | NP_787116.2:p.Lys729Arg |