Linked Data
dbSNP Id:
rs776022988
ExAC:
3:93593184 C / T
gnomAD v2:
3-93593184-C-T
gnomAD v3:
3-93874340-C-T
gnomAD v4:
3-93874340-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874340C>T , CM000665.2:g.93874340C>T | GRCh38 |
| NC_000003.11:g.93593184C>T , CM000665.1:g.93593184C>T | GRCh37 |
| NC_000003.10:g.95075874C>T | NCBI36 |
| NG_009813.1:g.104751G>A , LRG_572:g.104751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1936G>A | ENSP00000330021.7:p.Gly646Ser | |
| ENST00000394236.9:c.1936G>A MANE Select | ENSP00000377783.3:p.Gly646Ser | |
| ENST00000407433.6:c.1891G>A | ENSP00000385794.2:p.Gly631Ser | |
| ENST00000647936.1:c.*39G>A | ENSP00000496822.1:n.*39G>A | |
| ENST00000648381.1:n.2104G>A | ||
| ENST00000648853.1:c.1894G>A | ENSP00000497262.1:p.Gly632Ser | |
| ENST00000650591.1:c.2032G>A | ENSP00000497376.1:p.Gly678Ser | |
| ENST00000394236.7:c.1936G>A | ENSP00000377783.3:p.Gly646Ser | |
| ENST00000407433.5:c.1543G>A | ENSP00000385794.1:p.Gly515Ser | |
| NM_000313.3:c.1936G>A , LRG_572t1:c.1936G>A | NP_000304.2:p.Gly646Ser | |
| NM_001314077.1:c.2032G>A , LRG_572t2:c.2032G>A | NP_001301006.1:p.Gly678Ser | |
| NM_000313.4:c.1936G>A MANE Select | NP_000304.2:p.Gly646Ser | |
| NM_001314077.2:c.2032G>A | NP_001301006.1:p.Gly678Ser |