Linked Data
ClinVar Variation Id:
444297
dbSNP Id:
rs778753999
ExAC:
12:57884391 A / G
gnomAD v2:
12-57884391-A-G
gnomAD v3:
12-57490608-A-G
gnomAD v4:
12-57490608-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57490608A>G , CM000674.2:g.57490608A>G | GRCh38 |
| NC_000012.11:g.57884391A>G , CM000674.1:g.57884391A>G | GRCh37 |
| NC_000012.10:g.56170658A>G | NCBI36 |
| NG_034077.1:g.7656A>G | |
| NG_023205.2:g.3207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.734A>G MANE Select | ENSP00000262027.5:p.Glu245Gly | |
| ENST00000262027.9:c.734A>G | ENSP00000262027.5:p.Glu245Gly | |
| ENST00000447721.6:n.376A>G | ||
| ENST00000537638.6:c.734A>G | ENSP00000446168.2:p.Glu245Gly | |
| ENST00000545888.6:c.*235A>G | ENSP00000439307.2:n.*235A>G | |
| ENST00000548674.5:n.628A>G | ||
| ENST00000549074.5:c.*99A>G | ENSP00000447258.1:n.*99A>G | |
| ENST00000551431.5:c.*235A>G | ENSP00000446729.1:n.*235A>G | |
| ENST00000551892.1:c.*99A>G | ENSP00000450018.1:n.*99A>G | |
| ENST00000552371.1:c.349A>G | ||
| ENST00000628866.2:c.*235A>G | ENSP00000486738.1:n.*235A>G | |
| NM_004990.3:c.734A>G | NP_004981.2:p.Glu245Gly | |
| XM_006719398.2:c.32A>G | XP_006719461.1:p.Glu11Gly | |
| XM_011538353.1:c.734A>G | XP_011536655.1:p.Glu245Gly | |
| XM_006719398.4:c.32A>G | XP_006719461.1:p.Glu11Gly | |
| XR_001748704.2:n.757A>G | ||
| XR_002957327.1:n.681A>G | ||
| NM_004990.4:c.734A>G MANE Select | NP_004981.2:p.Glu245Gly |