Linked Data
dbSNP Id:
rs2241909
ExAC:
17:8108339 G / A
gnomAD v2:
17-8108339-G-A
gnomAD v3:
17-8205021-G-A
gnomAD v4:
17-8205021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8205021G>A , CM000679.2:g.8205021G>A | GRCh38 |
| NC_000017.10:g.8108339G>A , CM000679.1:g.8108339G>A | GRCh37 |
| NC_000017.9:g.8049064G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585124.6:c.885C>T MANE Select | ENSP00000463999.1:p.Ser295= | |
| ENST00000316199.10:c.888C>T | ENSP00000313950.6:p.Ser296= | |
| ENST00000534871.5:c.762C>T | ENSP00000443869.1:p.Ser254= | |
| ENST00000578549.5:c.789C>T | ENSP00000462207.1:p.Ser263= | |
| ENST00000578753.1:n.407C>T | ||
| ENST00000580998.5:c.*232C>T | ENSP00000461981.1:n.*232C>T | |
| ENST00000584972.5:c.577C>T | ||
| ENST00000585124.5:c.885C>T | ENSP00000463999.1:p.Ser295= | |
| NM_001256834.1:c.762C>T | NP_001243763.1:p.Ser254= | |
| NM_001256834.2:c.762C>T | NP_001243763.1:p.Ser254= | |
| NM_001284526.1:c.888C>T | NP_001271455.1:p.Ser296= | |
| NM_001313950.1:c.885C>T | NP_001300879.1:p.Ser295= | |
| NM_001313951.1:c.762C>T | NP_001300880.1:p.Ser254= | |
| NM_001313952.1:c.765C>T | NP_001300881.1:p.Ser255= | |
| NM_001313953.1:c.789C>T | NP_001300882.1:p.Ser263= | |
| NM_001313954.1:c.429C>T | NP_001300883.1:p.Ser143= | |
| NM_001313955.1:c.381C>T | NP_001300884.1:p.Ser127= | |
| NM_004217.3:c.885C>T | NP_004208.2:p.Ser295= | |
| NR_132730.1:n.865C>T | ||
| NR_132731.1:n.750C>T | ||
| XM_011524070.1:c.789C>T | XP_011522372.1:p.Ser263= | |
| XM_011524072.1:c.762C>T | XP_011522374.1:p.Ser254= | |
| XR_934118.1:n.1094C>T | ||
| NM_001313953.2:c.789C>T | NP_001300882.1:p.Ser263= | |
| XM_011524072.3:c.762C>T | XP_011522374.1:p.Ser254= | |
| XM_017025307.2:c.762C>T | XP_016880796.1:p.Ser254= | |
| XM_017025308.2:c.666C>T | XP_016880797.1:p.Ser222= | |
| XM_017025309.1:c.429C>T | XP_016880798.1:p.Ser143= | |
| XM_017025310.1:c.429C>T | XP_016880799.1:p.Ser143= | |
| XM_017025311.1:c.429C>T | XP_016880800.1:p.Ser143= | |
| NM_004217.4:c.885C>T MANE Select | NP_004208.2:p.Ser295= | |
| NM_001256834.3:c.762C>T | NP_001243763.1:p.Ser254= | |
| NM_001284526.2:c.888C>T | NP_001271455.1:p.Ser296= | |
| NM_001313950.2:c.885C>T | NP_001300879.1:p.Ser295= | |
| NM_001313952.2:c.765C>T | NP_001300881.1:p.Ser255= | |
| NM_001313953.3:c.789C>T | NP_001300882.1:p.Ser263= | |
| NM_001313954.2:c.429C>T | NP_001300883.1:p.Ser143= | |
| NM_001313955.2:c.381C>T | NP_001300884.1:p.Ser127= | |
| NR_132730.2:n.814C>T |