Linked Data
gnomAD v4:
12-69353321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353321A>G , CM000674.2:g.69353321A>G | GRCh38 |
| NC_000012.11:g.69747101A>G , CM000674.1:g.69747101A>G | GRCh37 |
| NC_000012.10:g.68033368A>G | NCBI36 |
| NG_008195.1:g.9968A>G , LRG_768:g.9968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*102A>G MANE Select | ENSP00000261267.2:n.*102A>G | |
| ENST00000261267.6:c.*102A>G | ENSP00000261267.2:n.*102A>G | |
| ENST00000549690.1:c.*56A>G | ENSP00000449898.1:n.*56A>G | |
| NM_000239.2:c.*102A>G , LRG_768t1:c.*102A>G | NP_000230.1:n.*102A>G | |
| NM_000239.3:c.*102A>G MANE Select | NP_000230.1:n.*102A>G |