Linked Data
dbSNP Id:
rs1921310
gnomAD v2:
2-162049201-A-G
gnomAD v3:
2-161192690-A-G
gnomAD v4:
2-161192690-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161192690A>G , CM000664.2:g.161192690A>G | GRCh38 |
| NC_000002.11:g.162049201A>G , CM000664.1:g.162049201A>G | GRCh37 |
| NC_000002.10:g.161757447A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392749.7:c.100-10797A>G MANE Select | ENSP00000376505.2:n.100-10797A>G | |
| ENST00000259075.6:c.100-10797A>G | ENSP00000259075.2:n.100-10797A>G | |
| ENST00000392749.6:c.100-10797A>G | ENSP00000376505.2:n.100-10797A>G | |
| ENST00000402568.5:c.274-10794A>G | ENSP00000384235.1:n.274-10794A>G | |
| ENST00000403609.1:c.100-10797A>G | ENSP00000385983.1:n.100-10797A>G | |
| ENST00000405852.5:c.100-10797A>G | ENSP00000385487.1:n.100-10797A>G | |
| ENST00000406287.5:c.274-10797A>G | ENSP00000384492.1:n.274-10797A>G | |
| ENST00000429217.5:c.100-10794A>G | ENSP00000411041.1:n.100-10794A>G | |
| ENST00000432002.5:c.100-10794A>G | ENSP00000398157.1:n.100-10794A>G | |
| ENST00000432692.6:c.100-10797A>G | ENSP00000412622.1:n.100-10797A>G | |
| ENST00000440506.5:c.100-10797A>G | ENSP00000399934.1:n.100-10797A>G | |
| ENST00000441987.5:c.100-10173A>G | ENSP00000410259.1:n.100-10173A>G | |
| ENST00000456358.5:c.178-10797A>G | ENSP00000392776.1:n.178-10797A>G | |
| ENST00000457887.5:c.100-10797A>G | ENSP00000388930.1:n.100-10797A>G | |
| ENST00000468831.5:n.280-10797A>G | ||
| ENST00000489393.1:n.110-4647A>G | ||
| NM_001199135.1:c.100-10797A>G | NP_001186064.1:n.100-10797A>G | |
| NM_004180.2:c.100-10797A>G | NP_004171.2:n.100-10797A>G | |
| NM_133484.1:c.100-10797A>G | NP_597841.1:n.100-10797A>G | |
| XM_005246207.3:c.178-10797A>G | XP_005246264.2:n.178-10797A>G | |
| XM_005246208.3:c.274-10794A>G | XP_005246265.1:n.274-10794A>G | |
| XM_005246210.2:c.100-10794A>G | XP_005246267.1:n.100-10794A>G | |
| XM_005246211.1:c.100-10794A>G | XP_005246268.1:n.100-10794A>G | |
| XM_011510455.1:c.100-10794A>G | XP_011508757.1:n.100-10794A>G | |
| NM_001199135.2:c.100-10797A>G | NP_001186064.1:n.100-10797A>G | |
| XM_017003093.1:c.274-10797A>G | XP_016858582.1:n.274-10797A>G | |
| XM_017003094.1:c.241-10797A>G | XP_016858583.1:n.241-10797A>G | |
| XM_017003095.1:c.169-10797A>G | XP_016858584.1:n.169-10797A>G | |
| XM_017003096.1:c.100-10797A>G | XP_016858585.1:n.100-10797A>G | |
| XM_017003097.1:c.100-10797A>G | XP_016858586.1:n.100-10797A>G | |
| XM_024452333.1:c.274-10797A>G | XP_024308101.1:n.274-10797A>G | |
| XM_024452335.1:c.187-10797A>G | XP_024308103.1:n.187-10797A>G | |
| XM_024452337.1:c.-477-10173A>G | XP_024308105.1:n.-477-10173A>G | |
| NM_001199135.3:c.100-10797A>G MANE Select | NP_001186064.1:n.100-10797A>G | |
| NM_004180.3:c.100-10797A>G | NP_004171.2:n.100-10797A>G | |
| NM_133484.2:c.100-10797A>G | NP_597841.1:n.100-10797A>G |