Linked Data
dbSNP Id:
rs1306008496
gnomAD v2:
11-126145319-G-A
gnomAD v3:
11-126275424-G-A
gnomAD v4:
11-126275424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275424G>A , CM000673.2:g.126275424G>A | GRCh38 |
| NC_000011.9:g.126145319G>A , CM000673.1:g.126145319G>A | GRCh37 |
| NC_000011.8:g.125650529G>A | NCBI36 |
| NG_028029.1:g.11385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1212G>A | ||
| ENST00000532101.6:n.831G>A | ||
| ENST00000532125.2:c.726G>A | ENSP00000434178.2:p.Val242= | |
| ENST00000533839.6:c.86-370G>A | ENSP00000509952.1:n.86-370G>A | |
| ENST00000534011.6:n.1021G>A | ||
| ENST00000685484.1:c.729G>A | ENSP00000510622.1:p.Val243= | |
| ENST00000685601.1:c.729G>A | ENSP00000510603.1:p.Val243= | |
| ENST00000685765.1:c.729G>A | ENSP00000509991.1:p.Val243= | |
| ENST00000685844.1:c.*266G>A | ENSP00000509820.1:n.*266G>A | |
| ENST00000685857.1:n.1468G>A | ||
| ENST00000686242.1:c.528G>A | ENSP00000508950.1:n.528G>A | |
| ENST00000686888.1:c.*296G>A | ENSP00000509619.1:n.*296G>A | |
| ENST00000687699.1:c.853G>A | ENSP00000508878.1:n.853G>A | |
| ENST00000687786.1:n.2165G>A | ||
| ENST00000688100.1:n.1650G>A | ||
| ENST00000688588.1:c.729G>A | ENSP00000510802.1:p.Val243= | |
| ENST00000688927.1:n.2940G>A | ||
| ENST00000689283.1:c.*392G>A | ENSP00000509050.1:n.*392G>A | |
| ENST00000689477.1:c.*622G>A | ENSP00000508945.1:n.*622G>A | |
| ENST00000689765.1:c.*222G>A | ENSP00000509625.1:n.*222G>A | |
| ENST00000690512.1:c.*580G>A | ENSP00000509793.1:n.*580G>A | |
| ENST00000692039.1:c.*527G>A | ENSP00000508821.1:n.*527G>A | |
| ENST00000692336.1:c.753G>A | ENSP00000508540.1:p.Val251= | |
| ENST00000693133.1:n.1209G>A | ||
| ENST00000263578.10:c.729G>A MANE Select | ENSP00000263578.5:p.Val243= | |
| ENST00000263578.9:c.729G>A | ENSP00000263578.5:p.Val243= | |
| ENST00000525083.5:n.449G>A | ||
| ENST00000525770.5:c.*361G>A | ENSP00000434739.1:n.*361G>A | |
| ENST00000527004.5:c.*73G>A | ENSP00000436374.1:n.*73G>A | |
| ENST00000530642.1:n.1511G>A | ||
| ENST00000532101.5:n.952G>A | ||
| ENST00000532125.1:c.687G>A | ENSP00000434178.1:p.Val229= | |
| ENST00000533395.5:n.462G>A | ||
| ENST00000533839.5:n.238-370G>A | ||
| ENST00000534011.5:n.781G>A | ||
| ENST00000534315.5:n.1041G>A | ||
| NM_017547.3:c.729G>A | NP_060017.1:p.Val243= | |
| NR_037647.1:n.675G>A | ||
| NR_037648.1:n.915G>A | ||
| XM_006718879.2:c.219G>A | XP_006718942.1:p.Val73= | |
| XM_006718880.2:c.96G>A | XP_006718943.1:p.Val32= | |
| XM_006718881.2:c.96G>A | XP_006718944.1:p.Val32= | |
| XM_011542895.1:c.219G>A | XP_011541197.1:p.Val73= | |
| XM_011542896.1:c.219G>A | XP_011541198.1:p.Val73= | |
| XM_006718879.3:c.219G>A | XP_006718942.1:p.Val73= | |
| XM_006718881.3:c.96G>A | XP_006718944.1:p.Val32= | |
| XM_011542895.2:c.219G>A | XP_011541197.1:p.Val73= | |
| XM_011542896.2:c.219G>A | XP_011541198.1:p.Val73= | |
| XM_017018000.2:c.729G>A | XP_016873489.1:p.Val243= | |
| XM_017018001.1:c.219G>A | XP_016873490.1:p.Val73= | |
| XM_017018002.1:c.219G>A | XP_016873491.1:p.Val73= | |
| XM_017018003.2:c.96G>A | XP_016873492.1:p.Val32= | |
| XM_017018004.1:c.96G>A | XP_016873493.1:p.Val32= | |
| XM_017018005.1:c.96G>A | XP_016873494.1:p.Val32= | |
| XM_017018006.2:c.96G>A | XP_016873495.1:p.Val32= | |
| NM_017547.4:c.729G>A MANE Select | NP_060017.1:p.Val243= | |
| NR_037647.2:n.561G>A | ||
| NR_037648.2:n.906G>A |