Linked Data
dbSNP Id:
rs200949110
gnomAD v2:
18-58038568-C-A
gnomAD v3:
18-60371335-C-A
gnomAD v4:
18-60371335-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371335C>A , CM000680.2:g.60371335C>A | GRCh38 |
| NC_000018.9:g.58038568C>A , CM000680.1:g.58038568C>A | GRCh37 |
| NC_000018.8:g.56189548C>A | NCBI36 |
| NG_016441.1:g.6434G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.*16G>T MANE Select | ENSP00000299766.3:n.*16G>T | |
| ENST00000299766.4:c.*16G>T | ENSP00000299766.3:n.*16G>T | |
| NM_005912.2:c.*16G>T | NP_005903.2:n.*16G>T | |
| NM_005912.3:c.*16G>T MANE Select | NP_005903.2:n.*16G>T |