Linked Data
dbSNP Id:
rs746734312
ExAC:
8:18257760 G / A
gnomAD v2:
8-18257760-G-A
gnomAD v3:
8-18400250-G-A
gnomAD v4:
8-18400250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400250G>A , CM000670.2:g.18400250G>A | GRCh38 |
| NC_000008.10:g.18257760G>A , CM000670.1:g.18257760G>A | GRCh37 |
| NC_000008.9:g.18302040G>A | NCBI36 |
| NG_012246.1:g.14006G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.247G>A MANE Select | ENSP00000286479.3:p.Gly83Ser | |
| ENST00000286479.3:c.247G>A | ENSP00000286479.3:p.Gly83Ser | |
| ENST00000520116.1:c.-57-87G>A | ENSP00000428416.1:n.-57-87G>A | |
| NM_000015.2:c.247G>A | NP_000006.2:p.Gly83Ser | |
| XM_011544358.1:c.247G>A | XP_011542660.1:p.Gly83Ser | |
| XM_017012938.1:c.247G>A | XP_016868427.1:p.Gly83Ser | |
| NM_000015.3:c.247G>A MANE Select | NP_000006.2:p.Gly83Ser |