Linked Data
dbSNP Id:
rs2070106
ExAC:
17:40125864 G / A
gnomAD v2:
17-40125864-G-A
gnomAD v3:
17-41973846-G-A
gnomAD v4:
17-41973846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41973846G>A , CM000679.2:g.41973846G>A | GRCh38 |
| NC_000017.10:g.40125864G>A , CM000679.1:g.40125864G>A | GRCh37 |
| NC_000017.9:g.37379390G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393892.8:c.1188G>A MANE Select | ENSP00000377470.2:p.Gly396= | |
| ENST00000393888.1:c.1128G>A | ENSP00000377466.1:p.Gly376= | |
| ENST00000393892.7:c.1188G>A | ENSP00000377470.2:p.Gly396= | |
| ENST00000472031.1:c.*365G>A | ENSP00000467641.1:n.*365G>A | |
| ENST00000486438.1:n.795G>A | ||
| NM_033133.4:c.1188G>A | NP_149124.3:p.Gly396= | |
| XM_006721701.2:c.1128G>A | XP_006721764.1:p.Gly376= | |
| XM_011524340.1:c.1128G>A | XP_011522642.1:p.Gly376= | |
| NM_001330216.1:c.1128G>A | NP_001317145.1:p.Gly376= | |
| XM_011524340.2:c.1128G>A | XP_011522642.1:p.Gly376= | |
| NM_033133.5:c.1188G>A MANE Select | NP_149124.3:p.Gly396= | |
| NM_001330216.2:c.1128G>A | NP_001317145.1:p.Gly376= |