Linked Data
gnomAD v4:
7-21619104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619104A>G , CM000669.2:g.21619104A>G | GRCh38 |
| NC_000007.13:g.21658722A>G , CM000669.1:g.21658722A>G | GRCh37 |
| NC_000007.12:g.21625247A>G | NCBI36 |
| NG_012886.2:g.80890A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4259A>G MANE Select | ENSP00000475939.1:p.Lys1420Arg | |
| ENST00000328843.10:c.4274A>G | ENSP00000330671.7:p.Lys1425Arg | |
| ENST00000409508.7:c.4259A>G | ENSP00000475939.1:p.Lys1420Arg | |
| ENST00000465593.1:n.285A>G | ||
| ENST00000620169.4:c.4274A>G | ENSP00000481693.1:p.Lys1425Arg | |
| NM_001277115.1:c.4259A>G | NP_001264044.1:p.Lys1420Arg | |
| NM_001277115.2:c.4259A>G MANE Select | NP_001264044.1:p.Lys1420Arg |