Linked Data
dbSNP Id:
rs767906422
ExAC:
2:208994177 A / G
gnomAD v2:
2-208994177-A-G
gnomAD v4:
2-208129453-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129453A>G , CM000664.2:g.208129453A>G | GRCh38 |
| NC_000002.11:g.208994177A>G , CM000664.1:g.208994177A>G | GRCh37 |
| NC_000002.10:g.208702422A>G | NCBI36 |
| NG_008038.1:g.5378T>C | |
| NG_008039.1:g.137T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.240T>C MANE Select | ENSP00000282141.3:p.Cys80= | |
| ENST00000282141.3:c.240T>C | ENSP00000282141.3:p.Cys80= | |
| NM_020989.3:c.240T>C | NP_066269.1:p.Cys80= | |
| NR_038437.1:n.98-7603A>G | ||
| XM_011510661.1:c.240T>C | XP_011508963.1:p.Cys80= | |
| XM_011510662.1:c.240T>C | XP_011508964.1:p.Cys80= | |
| XM_011510663.1:c.111T>C | XP_011508965.1:p.Cys37= | |
| NM_020989.4:c.240T>C MANE Select | NP_066269.1:p.Cys80= |