Linked Data
dbSNP Id:
rs1049702913
gnomAD v2:
17-1399467-G-C
gnomAD v3:
17-1496173-G-C
gnomAD v4:
17-1496173-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1496173G>C , CM000679.2:g.1496173G>C | GRCh38 |
| NC_000017.10:g.1399467G>C , CM000679.1:g.1399467G>C | GRCh37 |
| NC_000017.9:g.1346217G>C | NCBI36 |
| NG_029891.1:g.25716C>G | |
| NG_047063.1:g.1535C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421807.7:c.1186-9C>G MANE Select | ENSP00000413937.2:n.1186-9C>G | |
| ENST00000320345.10:c.958-9C>G | ENSP00000318476.6:n.958-9C>G | |
| ENST00000350761.9:c.*777-9C>G | ENSP00000254712.5:n.*777-9C>G | |
| ENST00000406424.8:c.958-9C>G | ENSP00000385177.4:n.958-9C>G | |
| ENST00000421807.6:c.1186-9C>G | ENSP00000413937.2:n.1186-9C>G | |
| ENST00000487039.1:n.289C>G | ||
| ENST00000574561.1:c.454-9C>G | ENSP00000461105.1:n.454-9C>G | |
| NM_001135642.1:c.958-9C>G | NP_001129114.1:n.958-9C>G | |
| NM_016532.3:c.1186-9C>G | NP_057616.2:n.1186-9C>G | |
| NM_130766.2:c.958-9C>G | NP_570122.1:n.958-9C>G | |
| XM_005256683.2:c.958-9C>G | XP_005256740.1:n.958-9C>G | |
| XM_005256685.1:c.910-9C>G | XP_005256742.1:n.910-9C>G | |
| XM_005256686.1:c.910-9C>G | XP_005256743.1:n.910-9C>G | |
| XM_011523934.1:c.958-9C>G | XP_011522236.1:n.958-9C>G | |
| XM_011523935.1:c.958-9C>G | XP_011522237.1:n.958-9C>G | |
| XM_011523936.1:c.781-9C>G | XP_011522238.1:n.781-9C>G | |
| XM_005256686.2:c.910-9C>G | XP_005256743.1:n.910-9C>G | |
| XM_011523936.2:c.781-9C>G | XP_011522238.1:n.781-9C>G | |
| XM_017024756.1:c.958-9C>G | XP_016880245.1:n.958-9C>G | |
| XM_017024757.2:c.910-9C>G | XP_016880246.1:n.910-9C>G | |
| XM_017024758.2:c.781-9C>G | XP_016880247.1:n.781-9C>G | |
| XM_017024759.1:c.781-9C>G | XP_016880248.1:n.781-9C>G | |
| XM_024450802.1:c.958-9C>G | XP_024306570.1:n.958-9C>G | |
| NM_016532.4:c.1186-9C>G MANE Select | NP_057616.2:n.1186-9C>G | |
| NM_001135642.2:c.958-9C>G | NP_001129114.1:n.958-9C>G | |
| NM_130766.3:c.958-9C>G | NP_570122.1:n.958-9C>G |