Linked Data
gnomAD v4:
2-46385512-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46385512A>G , CM000664.2:g.46385512A>G | GRCh38 |
| NC_000002.11:g.46612651A>G , CM000664.1:g.46612651A>G | GRCh37 |
| NC_000002.10:g.46466155A>G | NCBI36 |
| NG_016000.1:g.93111A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.*852A>G MANE Select | ENSP00000263734.3:n.*852A>G | |
| ENST00000263734.4:c.*852A>G | ENSP00000263734.3:n.*852A>G | |
| ENST00000466465.5:n.2438A>G | ||
| NM_001430.4:c.*852A>G | NP_001421.2:n.*852A>G | |
| XM_011532698.1:c.*852A>G | XP_011531000.1:n.*852A>G | |
| XM_011532698.2:c.*852A>G | XP_011531000.1:n.*852A>G | |
| NM_001430.5:c.*852A>G MANE Select | NP_001421.2:n.*852A>G |