Linked Data
dbSNP Id:
rs749672114
ExAC:
2:208994291 G / C
gnomAD v2:
2-208994291-G-C
gnomAD v4:
2-208129567-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129567G>C , CM000664.2:g.208129567G>C | GRCh38 |
| NC_000002.11:g.208994291G>C , CM000664.1:g.208994291G>C | GRCh37 |
| NC_000002.10:g.208702536G>C | NCBI36 |
| NG_008038.1:g.5264C>G | |
| NG_008039.1:g.23C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.126C>G MANE Select | ENSP00000282141.3:p.Cys42Trp | |
| ENST00000282141.3:c.126C>G | ENSP00000282141.3:p.Cys42Trp | |
| NM_020989.3:c.126C>G | NP_066269.1:p.Cys42Trp | |
| NR_038437.1:n.98-7489G>C | ||
| XM_011510661.1:c.126C>G | XP_011508963.1:p.Cys42Trp | |
| XM_011510662.1:c.126C>G | XP_011508964.1:p.Cys42Trp | |
| XM_011510663.1:c.-4C>G | XP_011508965.1:n.-4C>G | |
| NM_020989.4:c.126C>G MANE Select | NP_066269.1:p.Cys42Trp |