Linked Data
dbSNP Id:
rs755773055
ExAC:
7:99696252 C / T
gnomAD v2:
7-99696252-C-T
gnomAD v3:
7-100098629-C-T
gnomAD v4:
7-100098629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100098629C>T , CM000669.2:g.100098629C>T | GRCh38 |
| NC_000007.13:g.99696252C>T , CM000669.1:g.99696252C>T | GRCh37 |
| NC_000007.12:g.99534188C>T | NCBI36 |
| NG_016312.1:g.2123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425308.6:c.348G>A | ENSP00000411295.2:p.Gln116= | |
| ENST00000485286.6:n.1281G>A | ||
| ENST00000489841.6:n.1390G>A | ||
| ENST00000710813.1:c.348G>A | ENSP00000518500.1:p.Gln116= | |
| ENST00000710814.1:c.348G>A | ENSP00000518501.1:p.Gln116= | |
| ENST00000710815.1:c.348G>A | ENSP00000518502.1:p.Gln116= | |
| ENST00000303887.10:c.669G>A MANE Select | ENSP00000307288.5:p.Gln223= | |
| ENST00000303887.9:c.669G>A | ENSP00000307288.5:p.Gln223= | |
| ENST00000343023.10:c.669G>A | ENSP00000344006.6:p.Gln223= | |
| ENST00000354230.7:c.141G>A | ENSP00000346171.3:p.Gln47= | |
| ENST00000425308.5:c.348G>A | ENSP00000411295.1:p.Gln116= | |
| ENST00000463722.5:n.1044G>A | ||
| ENST00000485286.5:n.1258G>A | ||
| ENST00000489841.5:n.820G>A | ||
| ENST00000491245.6:c.85+1024G>A | ||
| ENST00000621318.4:c.141G>A | ENSP00000483795.1:p.Gln47= | |
| NM_001278595.1:c.141G>A | NP_001265524.1:p.Gln47= | |
| NM_005916.4:c.669G>A | NP_005907.3:p.Gln223= | |
| NM_182776.2:c.141G>A | NP_877577.1:p.Gln47= | |
| XM_005250348.2:c.348G>A | XP_005250405.1:p.Gln116= | |
| XM_005250348.3:c.348G>A | XP_005250405.1:p.Gln116= | |
| XM_017012217.2:c.348G>A | XP_016867706.1:p.Gln116= | |
| NM_001278595.2:c.141G>A | NP_001265524.1:p.Gln47= | |
| NM_005916.5:c.669G>A MANE Select | NP_005907.3:p.Gln223= | |
| NM_182776.3:c.141G>A | NP_877577.1:p.Gln47= |