Linked Data
dbSNP Id:
rs758992807
ExAC:
22:44342131 G / A
gnomAD v2:
22-44342131-G-A
gnomAD v4:
22-43946251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946251G>A , CM000684.2:g.43946251G>A | GRCh38 |
| NC_000022.10:g.44342131G>A , CM000684.1:g.44342131G>A | GRCh37 |
| NC_000022.9:g.42673464G>A | NCBI36 |
| NG_008631.1:g.27513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1315G>A MANE Select | ENSP00000216180.3:p.Glu439Lys | |
| ENST00000216180.7:c.1315G>A | ENSP00000216180.3:p.Glu439Lys | |
| ENST00000406117.6:c.*849+1456G>A | ENSP00000384668.2:n.*849+1456G>A | |
| ENST00000423180.2:c.1303G>A | ENSP00000397987.2:p.Glu435Lys | |
| NM_025225.2:c.1315G>A | NP_079501.2:p.Glu439Lys | |
| NM_025225.3:c.1315G>A MANE Select | NP_079501.2:p.Glu439Lys |