Linked Data
dbSNP Id:
rs35816645
gnomAD v2:
16-226761-G-A
gnomAD v3:
16-176762-G-A
gnomAD v4:
16-176762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176762G>A , CM000678.2:g.176762G>A | GRCh38 |
| NC_000016.9:g.226761G>A , CM000678.1:g.226761G>A | GRCh37 |
| NC_000016.8:g.166761G>A | NCBI36 |
| NG_000006.1:g.37625G>A | |
| NG_059186.1:g.5112G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.46G>A MANE Select | ENSP00000322421.5:p.Gly16Ser | |
| ENST00000397797.1:c.-2G>A | ENSP00000380899.1:n.-2G>A | |
| ENST00000472694.1:n.65G>A | ||
| ENST00000487791.1:n.15G>A | ||
| NM_000558.4:c.46G>A | NP_000549.1:p.Gly16Ser | |
| NM_000558.5:c.46G>A MANE Select | NP_000549.1:p.Gly16Ser |