ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061458C>T , CM000670.2:g.18061458C>T | GRCh38 |
| NC_000008.10:g.17918967C>T , CM000670.1:g.17918967C>T | GRCh37 |
| NC_000008.9:g.17963247C>T | NCBI36 |
| NG_008985.1:g.28541G>A | |
| NG_008985.2:g.28541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.752G>A | ENSP00000371152.4:p.Gly251Asp | |
| ENST00000517409.2:n.672G>A | ||
| ENST00000518746.2:n.2390G>A | ||
| ENST00000519545.6:n.721G>A | ||
| ENST00000520781.6:c.629G>A | ENSP00000427751.1:p.Gly210Asp | |
| ENST00000521542.2:n.12G>A | ||
| ENST00000635756.1:c.126-9G>A | ||
| ENST00000635944.1:c.*540G>A | ENSP00000490195.1:n.*540G>A | |
| ENST00000635998.1:c.704G>A | ENSP00000490506.1:p.Gly235Asp | |
| ENST00000636009.1:c.561G>A | ENSP00000489988.1:n.561G>A | |
| ENST00000636033.1:c.*540G>A | ENSP00000489617.1:n.*540G>A | |
| ENST00000636050.1:c.*547G>A | ENSP00000490562.1:n.*547G>A | |
| ENST00000636128.1:c.383G>A | ENSP00000489789.1:p.Gly128Asp | |
| ENST00000636160.1:c.*596G>A | ENSP00000489651.1:n.*596G>A | |
| ENST00000636171.1:c.647G>A | ENSP00000489761.1:p.Gly216Asp | |
| ENST00000636455.1:c.752G>A | ENSP00000490502.1:p.Gly251Asp | |
| ENST00000636494.1:c.*484G>A | ENSP00000490388.1:n.*484G>A | |
| ENST00000636563.1:n.366G>A | ||
| ENST00000636577.1:c.644G>A | ENSP00000490027.1:p.Gly215Asp | |
| ENST00000636691.1:c.509G>A | ENSP00000490725.1:p.Gly170Asp | |
| ENST00000636701.1:c.*355G>A | ENSP00000489800.1:n.*355G>A | |
| ENST00000636815.1:c.621G>A | ||
| ENST00000636920.1:c.*540G>A | ENSP00000490437.1:n.*540G>A | |
| ENST00000636997.1:c.617G>A | ENSP00000490093.1:p.Gly206Asp | |
| ENST00000637013.1:c.*1072G>A | ENSP00000490596.1:n.*1072G>A | |
| ENST00000637014.1:n.1111G>A | ||
| ENST00000637095.1:c.*484G>A | ENSP00000490415.1:n.*484G>A | |
| ENST00000637244.1:c.*1222G>A | ENSP00000490188.1:n.*1222G>A | |
| ENST00000637343.1:n.2141G>A | ||
| ENST00000637429.1:c.*916G>A | ENSP00000490522.1:n.*916G>A | |
| ENST00000637484.1:c.*666G>A | ENSP00000490837.1:n.*666G>A | |
| ENST00000637528.1:c.641G>A | ENSP00000490801.1:p.Gly214Asp | |
| ENST00000637609.1:n.3425G>A | ||
| ENST00000637636.1:c.698G>A | ENSP00000490112.1:p.Gly233Asp | |
| ENST00000637790.2:c.704G>A MANE Select | ENSP00000490272.1:p.Gly235Asp | |
| ENST00000637857.1:n.1070G>A | ||
| ENST00000637922.1:c.509G>A | ENSP00000490071.1:p.Gly170Asp | |
| ENST00000637991.1:c.677G>A | ENSP00000489901.1:p.Gly226Asp | |
| ENST00000638028.1:n.921G>A | ||
| ENST00000638069.1:n.1525G>A | ||
| ENST00000262097.10:c.704G>A | ENSP00000262097.6:p.Gly235Asp | |
| ENST00000314146.10:c.686G>A | ENSP00000326970.10:p.Gly229Asp | |
| ENST00000381733.8:c.752G>A | ENSP00000371152.4:p.Gly251Asp | |
| ENST00000518746.1:n.521G>A | ||
| ENST00000519468.5:n.533G>A | ||
| ENST00000520781.5:c.629G>A | ENSP00000427751.1:p.Gly210Asp | |
| ENST00000521542.1:n.417G>A | ||
| NM_001127505.1:c.686G>A | NP_001120977.1:p.Gly229Asp | |
| NM_001127505.2:c.686G>A | NP_001120977.1:p.Gly229Asp | |
| NM_004315.4:c.752G>A | NP_004306.3:p.Gly251Asp | |
| NM_004315.5:c.752G>A | NP_004306.3:p.Gly251Asp | |
| NM_177924.3:c.704G>A | NP_808592.2:p.Gly235Asp | |
| NM_177924.4:c.704G>A | NP_808592.2:p.Gly235Asp | |
| XM_005273504.2:c.638G>A | XP_005273561.1:p.Gly213Asp | |
| NM_001363743.1:c.509G>A | NP_001350672.1:p.Gly170Asp | |
| XM_005273504.3:c.638G>A | XP_005273561.1:p.Gly213Asp | |
| NM_177924.5:c.704G>A MANE Select | NP_808592.2:p.Gly235Asp | |
| NM_001127505.3:c.686G>A | NP_001120977.1:p.Gly229Asp | |
| NM_001363743.2:c.509G>A | NP_001350672.1:p.Gly170Asp | |
| NM_004315.6:c.752G>A | NP_004306.3:p.Gly251Asp |