Linked Data
dbSNP Id:
rs1186546741
gnomAD v2:
18-58038571-G-A
gnomAD v3:
18-60371338-G-A
gnomAD v4:
18-60371338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371338G>A , CM000680.2:g.60371338G>A | GRCh38 |
| NC_000018.9:g.58038571G>A , CM000680.1:g.58038571G>A | GRCh37 |
| NC_000018.8:g.56189551G>A | NCBI36 |
| NG_016441.1:g.6431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.*13C>T MANE Select | ENSP00000299766.3:n.*13C>T | |
| ENST00000299766.4:c.*13C>T | ENSP00000299766.3:n.*13C>T | |
| NM_005912.2:c.*13C>T | NP_005903.2:n.*13C>T | |
| NM_005912.3:c.*13C>T MANE Select | NP_005903.2:n.*13C>T |