Linked Data
ClinVar Variation Id:
1927807
ClinVar RCV Id:
RCV002621877
dbSNP Id:
rs1197554509
gnomAD v2:
3-39450148-C-G
gnomAD v4:
3-39408657-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39408657C>G , CM000665.2:g.39408657C>G | GRCh38 |
| NC_000003.11:g.39450148C>G , CM000665.1:g.39450148C>G | GRCh37 |
| NC_000003.10:g.39425152C>G | NCBI36 |
| NG_033234.1:g.6945C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458478.6:c.185C>G | ENSP00000410848.2:p.Ala62Gly | |
| ENST00000478027.3:n.735C>G | ||
| ENST00000697728.1:c.185C>G | ENSP00000513422.1:p.Ala62Gly | |
| ENST00000697729.1:c.185C>G | ENSP00000513423.1:p.Ala62Gly | |
| ENST00000697730.1:c.185C>G | ENSP00000513424.1:p.Ala62Gly | |
| ENST00000697731.1:c.185C>G | ENSP00000513425.1:p.Ala62Gly | |
| ENST00000697732.1:n.173C>G | ||
| ENST00000697753.1:c.185C>G | ENSP00000513432.1:p.Ala62Gly | |
| ENST00000697816.1:c.*82C>G | ENSP00000513451.1:n.*82C>G | |
| ENST00000301821.11:c.185C>G MANE Select | ENSP00000346067.4:p.Ala62Gly | |
| ENST00000301821.10:c.185C>G | ENSP00000346067.4:p.Ala62Gly | |
| ENST00000443003.2:c.185C>G | ENSP00000389351.1:p.Ala62Gly | |
| ENST00000444512.2:c.185C>G | ENSP00000396716.2:p.Ala62Gly | |
| ENST00000458478.5:c.185C>G | ENSP00000410848.1:p.Ala62Gly | |
| ENST00000477325.1:n.267C>G | ||
| ENST00000478027.2:n.454C>G | ||
| NM_001304288.1:c.185C>G | NP_001291217.1:p.Ala62Gly | |
| NM_002295.5:c.185C>G | NP_002286.2:p.Ala62Gly | |
| NM_002295.6:c.185C>G MANE Select | NP_002286.2:p.Ala62Gly | |
| NM_001304288.2:c.185C>G | NP_001291217.1:p.Ala62Gly |