Linked Data
gnomAD v4:
12-52447693-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447693T>G , CM000674.2:g.52447693T>G | GRCh38 |
| NC_000012.11:g.52841477T>G , CM000674.1:g.52841477T>G | GRCh37 |
| NC_000012.10:g.51127744T>G | NCBI36 |
| NG_008299.1:g.9434A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1424+85A>C MANE Select | ENSP00000252252.3:n.1424+85A>C | |
| ENST00000252252.3:c.1424+85A>C | ENSP00000252252.3:n.1424+85A>C | |
| NM_005555.3:c.1424+85A>C | NP_005546.2:n.1424+85A>C | |
| NM_005555.4:c.1424+85A>C MANE Select | NP_005546.2:n.1424+85A>C |