Linked Data
dbSNP Id:
rs746525791
ExAC:
16:67470071 A / G
gnomAD v2:
16-67470071-A-G
gnomAD v3:
16-67436168-A-G
gnomAD v4:
16-67436168-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436168A>G , CM000678.2:g.67436168A>G | GRCh38 |
| NC_000016.9:g.67470071A>G , CM000678.1:g.67470071A>G | GRCh37 |
| NC_000016.8:g.66027572A>G | NCBI36 |
| NG_011482.1:g.50019T>C | |
| NG_016549.1:g.10036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.664+26A>G MANE Select | ENSP00000316786.5:n.664+26A>G | |
| ENST00000326152.5:c.664+26A>G | ENSP00000316786.5:n.664+26A>G | |
| ENST00000567684.2:n.527+26A>G | ||
| NM_000196.3:c.664+26A>G | NP_000187.3:n.664+26A>G | |
| NM_000196.4:c.664+26A>G MANE Select | NP_000187.3:n.664+26A>G |