Linked Data
gnomAD v4:
12-69353384-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353384T>G , CM000674.2:g.69353384T>G | GRCh38 |
| NC_000012.11:g.69747164T>G , CM000674.1:g.69747164T>G | GRCh37 |
| NC_000012.10:g.68033431T>G | NCBI36 |
| NG_008195.1:g.10031T>G , LRG_768:g.10031T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*165T>G MANE Select | ENSP00000261267.2:n.*165T>G | |
| ENST00000261267.6:c.*165T>G | ENSP00000261267.2:n.*165T>G | |
| ENST00000549690.1:c.*119T>G | ENSP00000449898.1:n.*119T>G | |
| NM_000239.2:c.*165T>G , LRG_768t1:c.*165T>G | NP_000230.1:n.*165T>G | |
| NM_000239.3:c.*165T>G MANE Select | NP_000230.1:n.*165T>G |