Linked Data
gnomAD v4:
2-176119431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119431A>G , CM000664.2:g.176119431A>G | GRCh38 |
| NC_000002.11:g.176984159A>G , CM000664.1:g.176984159A>G | GRCh37 |
| NC_000002.10:g.176692405A>G | NCBI36 |
| NG_008133.2:g.12668A>G , LRG_246:g.12668A>G | |
| NG_009225.1:g.1747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*200A>G MANE Select | ENSP00000249501.4:n.*200A>G | |
| ENST00000249501.4:c.*200A>G | ENSP00000249501.4:n.*200A>G | |
| NM_002148.3:c.*200A>G , LRG_246t1:c.*200A>G | NP_002139.2:n.*200A>G | |
| NM_002148.4:c.*200A>G MANE Select | NP_002139.2:n.*200A>G |