Linked Data
ClinVar Variation Id:
462805
ClinVar RCV Id:
RCV000558417
dbSNP Id:
rs1354158738
gnomAD v4:
1-151612319-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151612319G>A , CM000663.2:g.151612319G>A | GRCh38 |
| NC_000001.10:g.151584795G>A , CM000663.1:g.151584795G>A | GRCh37 |
| NC_000001.9:g.149851419G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368841.7:c.118G>A | ENSP00000357834.2:p.Gly40Ser | |
| ENST00000368843.8:c.118G>A | ENSP00000357836.3:p.Gly40Ser | |
| ENST00000458013.7:c.118G>A MANE Select | ENSP00000400333.2:p.Gly40Ser | |
| ENST00000642376.1:c.118G>A | ENSP00000496645.1:p.Gly40Ser | |
| ENST00000642479.1:c.118G>A | ENSP00000496775.1:p.Gly40Ser | |
| ENST00000368841.6:c.118G>A | ENSP00000357834.2:p.Gly40Ser | |
| ENST00000368843.7:c.118G>A | ENSP00000357836.3:p.Gly40Ser | |
| ENST00000458013.6:c.118G>A | ENSP00000400333.2:p.Gly40Ser | |
| NM_030918.5:c.118G>A | NP_112180.4:p.Gly40Ser | |
| XM_005245509.1:c.118G>A | XP_005245566.1:p.Gly40Ser | |
| XM_005245511.3:c.-310G>A | XP_005245568.1:n.-310G>A | |
| XM_011510024.1:c.118G>A | XP_011508326.1:p.Gly40Ser | |
| XM_011510025.1:c.118G>A | XP_011508327.1:p.Gly40Ser | |
| XM_011510026.1:c.118G>A | XP_011508328.1:p.Gly40Ser | |
| NM_001330723.1:c.118G>A | NP_001317652.1:p.Gly40Ser | |
| XM_005245511.4:c.-310G>A | XP_005245568.1:n.-310G>A | |
| XM_011510024.2:c.118G>A | XP_011508326.1:p.Gly40Ser | |
| XM_011510025.2:c.118G>A | XP_011508327.1:p.Gly40Ser | |
| XM_011510026.2:c.118G>A | XP_011508328.1:p.Gly40Ser | |
| XM_017002417.1:c.118G>A | XP_016857906.1:p.Gly40Ser | |
| XM_024450038.1:c.-209G>A | XP_024305806.1:n.-209G>A | |
| NM_001330723.2:c.118G>A MANE Select | NP_001317652.1:p.Gly40Ser | |
| NM_030918.6:c.118G>A | NP_112180.4:p.Gly40Ser |