Linked Data
dbSNP Id:
rs765149912
ExAC:
17:1399160 G / C
gnomAD v2:
17-1399160-G-C
gnomAD v4:
17-1495866-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1495866G>C , CM000679.2:g.1495866G>C | GRCh38 |
| NC_000017.10:g.1399160G>C , CM000679.1:g.1399160G>C | GRCh37 |
| NC_000017.9:g.1345910G>C | NCBI36 |
| NG_029891.1:g.26023C>G | |
| NG_047063.1:g.1842C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421807.7:c.1304C>G MANE Select | ENSP00000413937.2:p.Ser435Cys | |
| ENST00000320345.10:c.1076C>G | ENSP00000318476.6:p.Ser359Cys | |
| ENST00000350761.9:c.*895C>G | ENSP00000254712.5:n.*895C>G | |
| ENST00000406424.8:c.1076C>G | ENSP00000385177.4:p.Ser359Cys | |
| ENST00000421807.6:c.1304C>G | ENSP00000413937.2:p.Ser435Cys | |
| ENST00000487039.1:n.416C>G | ||
| NM_001135642.1:c.1076C>G | NP_001129114.1:p.Ser359Cys | |
| NM_016532.3:c.1304C>G | NP_057616.2:p.Ser435Cys | |
| NM_130766.2:c.1076C>G | NP_570122.1:p.Ser359Cys | |
| XM_005256683.2:c.1076C>G | XP_005256740.1:p.Ser359Cys | |
| XM_005256685.1:c.1028C>G | XP_005256742.1:p.Ser343Cys | |
| XM_005256686.1:c.1028C>G | XP_005256743.1:p.Ser343Cys | |
| XM_011523934.1:c.1076C>G | XP_011522236.1:p.Ser359Cys | |
| XM_011523935.1:c.1076C>G | XP_011522237.1:p.Ser359Cys | |
| XM_011523936.1:c.899C>G | XP_011522238.1:p.Ser300Cys | |
| XM_005256686.2:c.1028C>G | XP_005256743.1:p.Ser343Cys | |
| XM_011523936.2:c.899C>G | XP_011522238.1:p.Ser300Cys | |
| XM_017024756.1:c.1076C>G | XP_016880245.1:p.Ser359Cys | |
| XM_017024757.2:c.1028C>G | XP_016880246.1:p.Ser343Cys | |
| XM_017024758.2:c.899C>G | XP_016880247.1:p.Ser300Cys | |
| XM_017024759.1:c.899C>G | XP_016880248.1:p.Ser300Cys | |
| XM_024450802.1:c.1076C>G | XP_024306570.1:p.Ser359Cys | |
| NM_016532.4:c.1304C>G MANE Select | NP_057616.2:p.Ser435Cys | |
| NM_001135642.2:c.1076C>G | NP_001129114.1:p.Ser359Cys | |
| NM_130766.3:c.1076C>G | NP_570122.1:p.Ser359Cys |