Linked Data
dbSNP Id:
rs747440395
ExAC:
17:1675287 G / A
gnomAD v2:
17-1675287-G-A
gnomAD v3:
17-1771993-G-A
gnomAD v4:
17-1771993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1771993G>A , CM000679.2:g.1771993G>A | GRCh38 |
| NC_000017.10:g.1675287G>A , CM000679.1:g.1675287G>A | GRCh37 |
| NC_000017.9:g.1622037G>A | NCBI36 |
| NG_028180.1:g.15029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.561G>A MANE Select | ENSP00000254722.4:p.Gln187= | |
| ENST00000254722.8:c.561G>A | ENSP00000254722.4:p.Gln187= | |
| ENST00000570820.1:n.781G>A | ||
| ENST00000572048.1:c.-1G>A | ENSP00000458484.1:n.-1G>A | |
| ENST00000573763.1:c.-41G>A | ENSP00000461405.1:n.-41G>A | |
| ENST00000576406.5:c.-1G>A | ENSP00000461214.1:n.-1G>A | |
| NM_002615.5:c.561G>A | NP_002606.3:p.Gln187= | |
| NM_001329903.1:c.561G>A | NP_001316832.1:p.Gln187= | |
| NM_001329904.1:c.-1G>A | NP_001316833.1:n.-1G>A | |
| NM_001329905.1:c.-1G>A | NP_001316834.1:n.-1G>A | |
| NM_002615.6:c.561G>A | NP_002606.3:p.Gln187= | |
| NM_002615.7:c.561G>A MANE Select | NP_002606.3:p.Gln187= | |
| NM_001329903.2:c.561G>A | NP_001316832.1:p.Gln187= | |
| NM_001329904.2:c.-1G>A | NP_001316833.1:n.-1G>A | |
| NM_001329905.2:c.-1G>A | NP_001316834.1:n.-1G>A |