Linked Data
ClinVar Variation Id:
255959
dbSNP Id:
rs17843776
ExAC:
3:124449406 A / G
gnomAD v2:
3-124449406-A-G
gnomAD v3:
3-124730559-A-G
gnomAD v4:
3-124730559-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124730559A>G , CM000665.2:g.124730559A>G | GRCh38 |
| NC_000003.11:g.124449406A>G , CM000665.1:g.124449406A>G | GRCh37 |
| NC_000003.10:g.125932096A>G | NCBI36 |
| NG_017037.1:g.5194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.88A>G MANE Select | ENSP00000232607.2:p.Ser30Gly | |
| ENST00000232607.6:c.88A>G | ENSP00000232607.2:p.Ser30Gly | |
| ENST00000460034.5:c.88A>G | ENSP00000420409.1:p.Ser30Gly | |
| ENST00000462091.5:c.88A>G | ENSP00000417893.1:p.Ser30Gly | |
| ENST00000467167.5:c.88A>G | ENSP00000419618.1:p.Ser30Gly | |
| ENST00000474588.5:c.88A>G | ENSP00000420348.1:p.Ser30Gly | |
| ENST00000479719.5:c.88A>G | ENSP00000420754.1:p.Ser30Gly | |
| ENST00000497791.5:c.88A>G | ENSP00000419121.1:p.Ser30Gly | |
| ENST00000628619.1:c.88A>G | ENSP00000486143.1:p.Ser30Gly | |
| NM_000373.3:c.88A>G | NP_000364.1:p.Ser30Gly | |
| NR_033434.1:n.194A>G | ||
| NR_033437.1:n.194A>G | ||
| XR_001740253.2:n.118A>G | ||
| NM_000373.4:c.88A>G MANE Select | NP_000364.1:p.Ser30Gly | |
| NR_033434.2:n.108A>G | ||
| NR_033437.2:n.108A>G |