Linked Data
dbSNP Id:
rs371949198
ExAC:
20:948702 C / G
gnomAD v2:
20-948702-C-G
gnomAD v4:
20-968059-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968059C>G , CM000682.2:g.968059C>G | GRCh38 |
| NC_000020.10:g.948702C>G , CM000682.1:g.948702C>G | GRCh37 |
| NC_000020.9:g.896702C>G | NCBI36 |
| NG_013043.1:g.39206G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.159G>C MANE Select | ENSP00000217260.4:p.Arg53Ser | |
| ENST00000217260.8:c.159G>C | ENSP00000217260.4:p.Arg53Ser | |
| ENST00000400634.2:c.159G>C | ENSP00000383475.2:p.Arg53Ser | |
| NM_001029871.3:c.159G>C | NP_001025042.2:p.Arg53Ser | |
| NM_001040007.2:c.159G>C | NP_001035096.1:p.Arg53Ser | |
| XM_011529232.1:c.207G>C | XP_011527534.1:p.Arg69Ser | |
| XM_011529233.1:c.207G>C | XP_011527535.1:p.Arg69Ser | |
| XR_937068.1:n.279G>C | ||
| XR_937069.1:n.274G>C | ||
| XM_017027839.1:c.159G>C | XP_016883328.1:p.Arg53Ser | |
| NM_001029871.4:c.159G>C MANE Select | NP_001025042.2:p.Arg53Ser | |
| NM_001040007.3:c.159G>C | NP_001035096.1:p.Arg53Ser |