Linked Data
dbSNP Id:
rs1984999578
gnomAD v4:
17-8204892-A-C
MyVariant Identifiers:
chr17:g.8108210A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8204892A>C , CM000679.2:g.8204892A>C | GRCh38 |
| NC_000017.10:g.8108210A>C , CM000679.1:g.8108210A>C | GRCh37 |
| NC_000017.9:g.8048935A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585124.6:c.1014T>G MANE Select | ENSP00000463999.1:p.Ser338= | |
| ENST00000316199.10:c.1017T>G | ENSP00000313950.6:p.Ser339= | |
| ENST00000534871.5:c.891T>G | ENSP00000443869.1:p.Ser297= | |
| ENST00000578549.5:c.918T>G | ENSP00000462207.1:p.Ser306= | |
| ENST00000584972.5:c.706T>G | ||
| ENST00000585124.5:c.1014T>G | ENSP00000463999.1:p.Ser338= | |
| NM_001256834.1:c.891T>G | NP_001243763.1:p.Ser297= | |
| NM_001256834.2:c.891T>G | NP_001243763.1:p.Ser297= | |
| NM_001284526.1:c.1017T>G | NP_001271455.1:p.Ser339= | |
| NM_001313950.1:c.1014T>G | NP_001300879.1:p.Ser338= | |
| NM_001313951.1:c.891T>G | NP_001300880.1:p.Ser297= | |
| NM_001313952.1:c.894T>G | NP_001300881.1:p.Ser298= | |
| NM_001313953.1:c.918T>G | NP_001300882.1:p.Ser306= | |
| NM_001313954.1:c.558T>G | NP_001300883.1:p.Ser186= | |
| NM_001313955.1:c.510T>G | NP_001300884.1:p.Ser170= | |
| NM_004217.3:c.1014T>G | NP_004208.2:p.Ser338= | |
| NR_132730.1:n.994T>G | ||
| NR_132731.1:n.879T>G | ||
| XM_011524070.1:c.918T>G | XP_011522372.1:p.Ser306= | |
| XM_011524072.1:c.891T>G | XP_011522374.1:p.Ser297= | |
| XR_934118.1:n.1223T>G | ||
| NM_001313953.2:c.918T>G | NP_001300882.1:p.Ser306= | |
| XM_011524072.3:c.891T>G | XP_011522374.1:p.Ser297= | |
| XM_017025307.2:c.891T>G | XP_016880796.1:p.Ser297= | |
| XM_017025308.2:c.795T>G | XP_016880797.1:p.Ser265= | |
| XM_017025309.1:c.558T>G | XP_016880798.1:p.Ser186= | |
| XM_017025310.1:c.558T>G | XP_016880799.1:p.Ser186= | |
| XM_017025311.1:c.558T>G | XP_016880800.1:p.Ser186= | |
| NM_004217.4:c.1014T>G MANE Select | NP_004208.2:p.Ser338= | |
| NM_001256834.3:c.891T>G | NP_001243763.1:p.Ser297= | |
| NM_001284526.2:c.1017T>G | NP_001271455.1:p.Ser339= | |
| NM_001313950.2:c.1014T>G | NP_001300879.1:p.Ser338= | |
| NM_001313952.2:c.894T>G | NP_001300881.1:p.Ser298= | |
| NM_001313953.3:c.918T>G | NP_001300882.1:p.Ser306= | |
| NM_001313954.2:c.558T>G | NP_001300883.1:p.Ser186= | |
| NM_001313955.2:c.510T>G | NP_001300884.1:p.Ser170= | |
| NR_132730.2:n.943T>G |