Linked Data
ClinVar Variation Id:
1710488
ClinVar RCV Id:
RCV002291495
dbSNP Id:
rs777736302
ExAC:
17:1399397 C / G
gnomAD v2:
17-1399397-C-G
gnomAD v4:
17-1496103-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1496103C>G , CM000679.2:g.1496103C>G | GRCh38 |
| NC_000017.10:g.1399397C>G , CM000679.1:g.1399397C>G | GRCh37 |
| NC_000017.9:g.1346147C>G | NCBI36 |
| NG_029891.1:g.25786G>C | |
| NG_047063.1:g.1605G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421807.7:c.1247G>C MANE Select | ENSP00000413937.2:p.Ser416Thr | |
| ENST00000320345.10:c.1019G>C | ENSP00000318476.6:p.Ser340Thr | |
| ENST00000350761.9:c.*838G>C | ENSP00000254712.5:n.*838G>C | |
| ENST00000406424.8:c.1019G>C | ENSP00000385177.4:p.Ser340Thr | |
| ENST00000421807.6:c.1247G>C | ENSP00000413937.2:p.Ser416Thr | |
| ENST00000487039.1:n.359G>C | ||
| NM_001135642.1:c.1019G>C | NP_001129114.1:p.Ser340Thr | |
| NM_016532.3:c.1247G>C | NP_057616.2:p.Ser416Thr | |
| NM_130766.2:c.1019G>C | NP_570122.1:p.Ser340Thr | |
| XM_005256683.2:c.1019G>C | XP_005256740.1:p.Ser340Thr | |
| XM_005256685.1:c.971G>C | XP_005256742.1:p.Ser324Thr | |
| XM_005256686.1:c.971G>C | XP_005256743.1:p.Ser324Thr | |
| XM_011523934.1:c.1019G>C | XP_011522236.1:p.Ser340Thr | |
| XM_011523935.1:c.1019G>C | XP_011522237.1:p.Ser340Thr | |
| XM_011523936.1:c.842G>C | XP_011522238.1:p.Ser281Thr | |
| XM_005256686.2:c.971G>C | XP_005256743.1:p.Ser324Thr | |
| XM_011523936.2:c.842G>C | XP_011522238.1:p.Ser281Thr | |
| XM_017024756.1:c.1019G>C | XP_016880245.1:p.Ser340Thr | |
| XM_017024757.2:c.971G>C | XP_016880246.1:p.Ser324Thr | |
| XM_017024758.2:c.842G>C | XP_016880247.1:p.Ser281Thr | |
| XM_017024759.1:c.842G>C | XP_016880248.1:p.Ser281Thr | |
| XM_024450802.1:c.1019G>C | XP_024306570.1:p.Ser340Thr | |
| NM_016532.4:c.1247G>C MANE Select | NP_057616.2:p.Ser416Thr | |
| NM_001135642.2:c.1019G>C | NP_001129114.1:p.Ser340Thr | |
| NM_130766.3:c.1019G>C | NP_570122.1:p.Ser340Thr |