Linked Data
gnomAD v4:
2-84425590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425590T>C , CM000664.2:g.84425590T>C | GRCh38 |
| NC_000002.11:g.84652714T>C , CM000664.1:g.84652714T>C | GRCh37 |
| NC_000002.10:g.84506225T>C | NCBI36 |
| NG_016755.1:g.38873A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.839A>G MANE Select | ENSP00000377446.2:p.Lys280Arg | |
| ENST00000651342.1:c.*279A>G | ENSP00000498471.1:n.*279A>G | |
| ENST00000393868.6:c.839A>G | ENSP00000377446.2:p.Lys280Arg | |
| ENST00000484365.1:n.1347A>G | ||
| ENST00000487809.1:n.586A>G | ||
| ENST00000491123.5:n.685A>G | ||
| NM_003849.3:c.839A>G | NP_003840.2:p.Lys280Arg | |
| NM_003849.4:c.839A>G MANE Select | NP_003840.2:p.Lys280Arg |