Linked Data
dbSNP Id:
rs747711207
ExAC:
16:67469947 T / A
gnomAD v2:
16-67469947-T-A
gnomAD v4:
16-67436044-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436044T>A , CM000678.2:g.67436044T>A | GRCh38 |
| NC_000016.9:g.67469947T>A , CM000678.1:g.67469947T>A | GRCh37 |
| NC_000016.8:g.66027448T>A | NCBI36 |
| NG_011482.1:g.50143A>T | |
| NG_016549.1:g.9912T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.566T>A MANE Select | ENSP00000316786.5:p.Met189Lys | |
| ENST00000326152.5:c.566T>A | ENSP00000316786.5:p.Met189Lys | |
| ENST00000566606.1:c.544T>A | ENSP00000473429.1:n.544T>A | |
| ENST00000567684.2:n.429T>A | ||
| NM_000196.3:c.566T>A | NP_000187.3:p.Met189Lys | |
| NM_000196.4:c.566T>A MANE Select | NP_000187.3:p.Met189Lys |