Linked Data
ClinVar Variation Id:
4269
ClinVar RCV Id:
RCV000004490
dbSNP Id:
rs119473030
gnomAD v3:
17-75278265-C-G
gnomAD v4:
17-75278265-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75278265C>G , CM000679.2:g.75278265C>G | GRCh38 |
| NC_000017.10:g.73274346C>G , CM000679.1:g.73274346C>G | GRCh37 |
| NC_000017.9:g.70785941C>G | NCBI36 |
| NG_008274.1:g.16185G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416858.7:c.530G>C MANE Select | ENSP00000397818.2:p.Gly177Ala | |
| ENST00000320362.7:c.530G>C | ENSP00000319574.3:p.Gly177Ala | |
| ENST00000375261.8:c.359G>C | ENSP00000364410.4:p.Gly120Ala | |
| ENST00000402418.7:c.530G>C | ENSP00000385312.3:p.Gly177Ala | |
| ENST00000416858.6:c.530G>C | ENSP00000397818.2:p.Gly177Ala | |
| ENST00000442286.6:c.530G>C | ENSP00000402202.2:p.Gly177Ala | |
| ENST00000580273.1:c.227G>C | ENSP00000463039.1:p.Gly76Ala | |
| ENST00000580994.5:c.530G>C | ENSP00000463795.1:p.Gly177Ala | |
| ENST00000582822.1:c.152-4977G>C | ||
| ENST00000583332.5:c.460-4626G>C | ENSP00000462214.1:n.460-4626G>C | |
| NM_001126121.1:c.530G>C | NP_001119593.1:p.Gly177Ala | |
| NM_001126122.1:c.530G>C | NP_001119594.1:p.Gly177Ala | |
| NM_021734.4:c.530G>C | NP_068380.3:p.Gly177Ala | |
| XM_005257559.2:c.530G>C | XP_005257616.1:p.Gly177Ala | |
| XM_005257560.1:c.530G>C | XP_005257617.1:p.Gly177Ala | |
| XM_005257561.2:c.530G>C | XP_005257618.1:p.Gly177Ala | |
| XM_005257562.1:c.530G>C | XP_005257619.1:p.Gly177Ala | |
| XM_006722007.1:c.530G>C | XP_006722070.1:p.Gly177Ala | |
| XM_011525098.1:c.460-4626G>C | XP_011523400.1:n.460-4626G>C | |
| XM_005257559.4:c.530G>C | XP_005257616.1:p.Gly177Ala | |
| XM_005257560.2:c.530G>C | XP_005257617.1:p.Gly177Ala | |
| XM_005257561.4:c.530G>C | XP_005257618.1:p.Gly177Ala | |
| XM_005257562.2:c.530G>C | XP_005257619.1:p.Gly177Ala | |
| XM_006722007.2:c.530G>C | XP_006722070.1:p.Gly177Ala | |
| XM_017024926.2:c.530G>C | XP_016880415.1:p.Gly177Ala | |
| XM_017024927.2:c.227G>C | XP_016880416.1:p.Gly76Ala | |
| XM_017024928.2:c.460-4626G>C | XP_016880417.1:n.460-4626G>C | |
| NM_001126121.2:c.530G>C MANE Select | NP_001119593.1:p.Gly177Ala | |
| NM_001126122.2:c.530G>C | NP_001119594.1:p.Gly177Ala | |
| NM_021734.5:c.530G>C | NP_068380.3:p.Gly177Ala |