Linked Data
dbSNP Id:
rs1369318649
gnomAD v2:
16-226878-G-A
gnomAD v3:
16-176879-G-A
gnomAD v4:
16-176879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176879G>A , CM000678.2:g.176879G>A | GRCh38 |
| NC_000016.9:g.226878G>A , CM000678.1:g.226878G>A | GRCh37 |
| NC_000016.8:g.166878G>A | NCBI36 |
| NG_000006.1:g.37742G>A | |
| NG_059186.1:g.5229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.96-50G>A MANE Select | ENSP00000322421.5:n.96-50G>A | |
| ENST00000397797.1:c.-1-50G>A | ENSP00000380899.1:n.-1-50G>A | |
| ENST00000472694.1:n.182G>A | ||
| ENST00000487791.1:n.65-50G>A | ||
| NM_000558.4:c.96-50G>A | NP_000549.1:n.96-50G>A | |
| NM_000558.5:c.96-50G>A MANE Select | NP_000549.1:n.96-50G>A |