Linked Data
dbSNP Id:
rs748402636
ExAC:
1:9017344 G / A
gnomAD v2:
1-9017344-G-A
gnomAD v4:
1-8957285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957285G>A , CM000663.2:g.8957285G>A | GRCh38 |
| NC_000001.10:g.9017344G>A , CM000663.1:g.9017344G>A | GRCh37 |
| NC_000001.9:g.8939931G>A | NCBI36 |
| NG_033975.1:g.16452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.408G>A MANE Select | ENSP00000366662.2:p.Glu136= | |
| ENST00000377436.6:c.408G>A | ENSP00000366654.3:p.Glu136= | |
| ENST00000377442.3:c.228G>A | ENSP00000366661.2:p.Glu76= | |
| ENST00000377443.6:c.408G>A | ENSP00000366662.2:p.Glu136= | |
| ENST00000476083.1:n.99-1625G>A | ||
| ENST00000549778.5:c.312G>A | ENSP00000447108.1:p.Glu104= | |
| NM_001215.3:c.408G>A | NP_001206.2:p.Glu136= | |
| NM_001270500.1:c.408G>A | NP_001257429.1:p.Glu136= | |
| NM_001270501.1:c.228G>A | NP_001257430.1:p.Glu76= | |
| NM_001270502.1:c.25-1625G>A | NP_001257431.1:n.25-1625G>A | |
| XM_011542083.1:c.420G>A | XP_011540385.1:p.Glu140= | |
| XM_011542084.1:c.420G>A | XP_011540386.1:p.Glu140= | |
| XM_011542083.3:c.420G>A | XP_011540385.1:p.Glu140= | |
| XM_011542084.3:c.420G>A | XP_011540386.1:p.Glu140= | |
| NM_001215.4:c.408G>A MANE Select | NP_001206.2:p.Glu136= | |
| NM_001270500.2:c.408G>A | NP_001257429.1:p.Glu136= | |
| NM_001270501.2:c.228G>A | NP_001257430.1:p.Glu76= | |
| NM_001270502.2:c.25-1625G>A | NP_001257431.1:n.25-1625G>A |