MyVariant.info:
GRCh37
chr5:g.125918565T>A
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582873T>A , CM000667.2:g.126582873T>A | GRCh38 |
| NC_000005.9:g.125918565T>A , CM000667.1:g.125918565T>A | GRCh37 |
| NC_000005.8:g.125946464T>A | NCBI36 |
| NG_008600.2:g.17518A>T | |
| NG_008600.3:g.17518A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.495A>T MANE Select | ENSP00000387123.3:p.Gly165= | |
| ENST00000412186.2:c.393+1059A>T | ENSP00000414536.2:n.393+1059A>T | |
| ENST00000413020.6:c.495A>T | ENSP00000487936.1:p.Gly165= | |
| ENST00000458249.6:c.*404A>T | ENSP00000403929.1:n.*404A>T | |
| ENST00000503281.6:c.107-5662A>T | ||
| ENST00000509270.2:c.429A>T | ENSP00000449318.2:p.Gly143= | |
| ENST00000509459.6:c.66-5662A>T | ||
| ENST00000511266.6:n.1217A>T | ||
| ENST00000635851.1:c.493A>T | ||
| ENST00000636062.1:n.390A>T | ||
| ENST00000636190.1:n.374A>T | ||
| ENST00000636225.1:c.*304A>T | ENSP00000490797.1:n.*304A>T | |
| ENST00000636286.1:n.213A>T | ||
| ENST00000636743.1:c.375A>T | ENSP00000489725.1:p.Gly125= | |
| ENST00000636808.1:c.*304A>T | ENSP00000490833.1:n.*304A>T | |
| ENST00000636872.1:c.655A>T | ENSP00000490919.1:n.655A>T | |
| ENST00000636879.1:c.495A>T | ENSP00000490811.1:p.Gly165= | |
| ENST00000636886.1:c.294A>T | ENSP00000490371.1:p.Gly98= | |
| ENST00000637070.1:n.109A>T | ||
| ENST00000637206.1:c.495A>T | ENSP00000489895.1:p.Gly165= | |
| ENST00000637272.1:c.495A>T | ENSP00000489686.1:p.Gly165= | |
| ENST00000637292.1:c.148A>T | ||
| ENST00000637782.1:c.495A>T | ENSP00000490024.1:p.Gly165= | |
| ENST00000637964.1:c.441A>T | ENSP00000490291.1:p.Gly147= | |
| ENST00000638008.1:c.*437A>T | ENSP00000490400.1:n.*437A>T | |
| ENST00000409134.7:c.495A>T | ENSP00000387123.3:p.Gly165= | |
| ENST00000413020.5:c.495A>T | ENSP00000487936.1:p.Gly165= | |
| ENST00000447989.6:c.576A>T | ENSP00000414132.2:p.Gly192= | |
| ENST00000458249.5:c.655A>T | ENSP00000403929.1:n.655A>T | |
| ENST00000503281.5:c.107-5662A>T | ||
| ENST00000509270.1:c.375A>T | ENSP00000449318.1:p.Gly125= | |
| ENST00000509459.5:c.66-5662A>T | ||
| ENST00000510111.6:c.408A>T | ENSP00000447388.1:p.Gly136= | |
| ENST00000511266.5:n.348+1059A>T | ||
| ENST00000553117.5:c.495A>T | ENSP00000448593.1:p.Gly165= | |
| NM_001182.4:c.495A>T | NP_001173.2:p.Gly165= | |
| NM_001201377.1:c.411A>T | NP_001188306.1:p.Gly137= | |
| NM_001202404.1:c.576A>T | NP_001189333.1:p.Gly192= | |
| XM_011543417.1:c.90A>T | XP_011541719.1:p.Gly30= | |
| XM_011543417.2:c.90A>T | XP_011541719.1:p.Gly30= | |
| NM_001182.5:c.495A>T MANE Select | NP_001173.2:p.Gly165= | |
| NM_001201377.2:c.411A>T | NP_001188306.1:p.Gly137= | |
| NM_001202404.2:c.495A>T | NP_001189333.2:p.Gly165= |