Linked Data
ClinVar Variation Id:
193539
dbSNP Id:
rs747268471
ExAC:
1:76216214 G / A
gnomAD v2:
1-76216214-G-A
gnomAD v3:
1-75750529-G-A
gnomAD v4:
1-75750529-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750529G>A , CM000663.2:g.75750529G>A | GRCh38 |
| NC_000001.10:g.76216214G>A , CM000663.1:g.76216214G>A | GRCh37 |
| NC_000001.9:g.75988802G>A | NCBI36 |
| NG_007045.2:g.31172G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.928G>A MANE Select | ENSP00000359878.5:p.Gly310Arg | |
| ENST00000473018.3:n.3052G>A | ||
| ENST00000532207.6:n.1817G>A | ||
| ENST00000541113.6:c.849+970G>A | ENSP00000442324.2:n.849+970G>A | |
| ENST00000679509.1:n.1890G>A | ||
| ENST00000679530.1:c.*696G>A | ENSP00000506454.1:n.*696G>A | |
| ENST00000679615.1:n.2943G>A | ||
| ENST00000679687.1:c.490G>A | ENSP00000506598.1:p.Gly164Arg | |
| ENST00000679704.1:c.*694G>A | ENSP00000505117.1:n.*694G>A | |
| ENST00000679709.1:c.*891G>A | ENSP00000506623.1:n.*891G>A | |
| ENST00000679976.1:c.*512G>A | ENSP00000505565.1:n.*512G>A | |
| ENST00000680166.1:n.4217G>A | ||
| ENST00000680315.1:n.811G>A | ||
| ENST00000680517.1:c.*316G>A | ENSP00000505803.1:n.*316G>A | |
| ENST00000680582.1:n.1890G>A | ||
| ENST00000680613.1:c.*299G>A | ENSP00000506114.1:n.*299G>A | |
| ENST00000680662.1:c.*842G>A | ENSP00000505080.1:n.*842G>A | |
| ENST00000680691.1:c.*591G>A | ENSP00000506487.1:n.*591G>A | |
| ENST00000680694.1:c.*516G>A | ENSP00000505658.1:n.*516G>A | |
| ENST00000680743.1:c.*595G>A | ENSP00000505073.1:n.*595G>A | |
| ENST00000680749.1:c.*213G>A | ENSP00000505122.1:n.*213G>A | |
| ENST00000680798.1:c.*403G>A | ENSP00000505670.1:n.*403G>A | |
| ENST00000680805.1:c.787G>A | ENSP00000505447.1:p.Gly263Arg | |
| ENST00000680844.1:c.*712G>A | ENSP00000506541.1:n.*712G>A | |
| ENST00000680948.1:c.*795G>A | ENSP00000505441.1:n.*795G>A | |
| ENST00000680964.1:c.928G>A | ENSP00000505961.1:p.Gly310Arg | |
| ENST00000681037.1:c.*2412G>A | ENSP00000506025.1:n.*2412G>A | |
| ENST00000681063.1:c.*75G>A | ENSP00000506616.1:n.*75G>A | |
| ENST00000681209.1:c.*583G>A | ENSP00000505877.1:n.*583G>A | |
| ENST00000681278.1:n.1285G>A | ||
| ENST00000681289.1:n.4923G>A | ||
| ENST00000681361.1:c.*595G>A | ENSP00000506679.1:n.*595G>A | |
| ENST00000681430.1:c.928G>A | ENSP00000506301.1:p.Gly310Arg | |
| ENST00000681446.1:c.*510G>A | ENSP00000506244.1:n.*510G>A | |
| ENST00000681450.1:c.*599G>A | ENSP00000505660.1:n.*599G>A | |
| ENST00000681548.1:c.*514G>A | ENSP00000505275.1:n.*514G>A | |
| ENST00000681616.1:c.*587G>A | ENSP00000505111.1:n.*587G>A | |
| ENST00000681621.1:c.*512G>A | ENSP00000505770.1:n.*512G>A | |
| ENST00000681680.1:n.3023G>A | ||
| ENST00000681720.1:c.*383G>A | ENSP00000505438.1:n.*383G>A | |
| ENST00000681730.1:n.1150G>A | ||
| ENST00000681790.1:c.670G>A | ENSP00000505130.1:p.Gly224Arg | |
| ENST00000681837.1:n.1544G>A | ||
| ENST00000681913.1:n.3052G>A | ||
| ENST00000681916.1:c.*696G>A | ENSP00000506477.1:n.*696G>A | |
| ENST00000681930.1:n.3052G>A | ||
| ENST00000370834.9:c.1027G>A | ENSP00000359871.5:p.Gly343Arg | |
| ENST00000370841.8:c.928G>A | ENSP00000359878.4:p.Gly310Arg | |
| ENST00000420607.6:c.940G>A | ENSP00000409612.2:p.Gly314Arg | |
| ENST00000481374.1:n.79G>A | ||
| ENST00000525808.5:c.*514G>A | ENSP00000434823.1:n.*514G>A | |
| ENST00000526129.5:c.*712G>A | ENSP00000434092.1:n.*712G>A | |
| ENST00000526196.5:c.*696G>A | ENSP00000431953.1:n.*696G>A | |
| ENST00000528016.1:c.142G>A | ENSP00000434284.1:p.Gly48Arg | |
| ENST00000529059.5:n.837G>A | ||
| ENST00000532207.5:n.658G>A | ||
| ENST00000534334.5:c.*512G>A | ENSP00000435584.1:n.*512G>A | |
| ENST00000541113.5:c.820G>A | ENSP00000442324.1:p.Gly274Arg | |
| NM_000016.5:c.928G>A | NP_000007.1:p.Gly310Arg | |
| NM_001127328.2:c.940G>A | NP_001120800.1:p.Gly314Arg | |
| NM_001286042.1:c.820G>A | NP_001272971.1:p.Gly274Arg | |
| NM_001286043.1:c.1027G>A | NP_001272972.1:p.Gly343Arg | |
| NM_001286044.1:c.361G>A | NP_001272973.1:p.Gly121Arg | |
| NM_000016.6:c.928G>A MANE Select | NP_000007.1:p.Gly310Arg | |
| NM_001127328.3:c.940G>A | NP_001120800.1:p.Gly314Arg | |
| NM_001286042.2:c.820G>A | NP_001272971.1:p.Gly274Arg | |
| NM_001286043.2:c.1027G>A | NP_001272972.1:p.Gly343Arg | |
| NM_001286044.2:c.361G>A | NP_001272973.1:p.Gly121Arg |