Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119166A>G , CM000664.2:g.176119166A>G | GRCh38 |
| NC_000002.11:g.176983894A>G , CM000664.1:g.176983894A>G | GRCh37 |
| NC_000002.10:g.176692140A>G | NCBI36 |
| NG_008133.2:g.12403A>G , LRG_246:g.12403A>G | |
| NG_009225.1:g.1482A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249501.5:c.958A>G MANE Select | ENSP00000249501.4:p.Lys320Glu | |
| ENST00000249501.4:c.958A>G | ENSP00000249501.4:p.Lys320Glu | |
| ENST00000490088.2:n.782A>G | ||
| ENST00000549469.1:n.829A>G | ||
| NM_002148.3:c.958A>G , LRG_246t1:c.958A>G | NP_002139.2:p.Lys320Glu | |
| NM_002148.4:c.958A>G MANE Select | NP_002139.2:p.Lys320Glu |