Linked Data
dbSNP Id:
rs770048736
ExAC:
4:187118734 G / A
gnomAD v2:
4-187118734-G-A
gnomAD v3:
4-186197580-G-A
gnomAD v4:
4-186197580-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197580G>A , CM000666.2:g.186197580G>A | GRCh38 |
| NC_000004.11:g.187118734G>A , CM000666.1:g.187118734G>A | GRCh37 |
| NC_000004.10:g.187355728G>A | NCBI36 |
| NG_007965.1:g.11061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.652G>A MANE Select | ENSP00000368079.4:p.Glu218Lys | |
| ENST00000378802.4:c.652G>A | ENSP00000368079.4:p.Glu218Lys | |
| ENST00000507209.5:n.1493G>A | ||
| NM_207352.3:c.652G>A | NP_997235.3:p.Glu218Lys | |
| XM_005262935.2:c.652G>A | XP_005262992.1:p.Glu218Lys | |
| XM_006714184.2:c.256G>A | XP_006714247.1:p.Glu86Lys | |
| XM_005262935.4:c.652G>A | XP_005262992.1:p.Glu218Lys | |
| XM_017008037.1:c.256G>A | XP_016863526.1:p.Glu86Lys | |
| NM_207352.4:c.652G>A MANE Select | NP_997235.3:p.Glu218Lys |