Linked Data
dbSNP Id:
rs778130157
ExAC:
20:948740 A / G
gnomAD v2:
20-948740-A-G
gnomAD v3:
20-968097-A-G
gnomAD v4:
20-968097-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968097A>G , CM000682.2:g.968097A>G | GRCh38 |
| NC_000020.10:g.948740A>G , CM000682.1:g.948740A>G | GRCh37 |
| NC_000020.9:g.896740A>G | NCBI36 |
| NG_013043.1:g.39168T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.121T>C MANE Select | ENSP00000217260.4:p.Cys41Arg | |
| ENST00000217260.8:c.121T>C | ENSP00000217260.4:p.Cys41Arg | |
| ENST00000400634.2:c.121T>C | ENSP00000383475.2:p.Cys41Arg | |
| NM_001029871.3:c.121T>C | NP_001025042.2:p.Cys41Arg | |
| NM_001040007.2:c.121T>C | NP_001035096.1:p.Cys41Arg | |
| XM_011529232.1:c.169T>C | XP_011527534.1:p.Cys57Arg | |
| XM_011529233.1:c.169T>C | XP_011527535.1:p.Cys57Arg | |
| XR_937068.1:n.241T>C | ||
| XR_937069.1:n.236T>C | ||
| XM_017027839.1:c.121T>C | XP_016883328.1:p.Cys41Arg | |
| NM_001029871.4:c.121T>C MANE Select | NP_001025042.2:p.Cys41Arg | |
| NM_001040007.3:c.121T>C | NP_001035096.1:p.Cys41Arg |