Linked Data
dbSNP Id:
rs773309062
ExAC:
1:241680557 A / C
gnomAD v2:
1-241680557-A-C
gnomAD v4:
1-241517257-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517257A>C , CM000663.2:g.241517257A>C | GRCh38 |
| NC_000001.10:g.241680557A>C , CM000663.1:g.241680557A>C | GRCh37 |
| NC_000001.9:g.239747180A>C | NCBI36 |
| NG_012338.1:g.7498T>G , LRG_504:g.7498T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.695T>G | ||
| ENST00000682162.1:c.221T>G | ENSP00000508203.1:n.221T>G | |
| ENST00000682567.1:n.269T>G | ||
| ENST00000683521.1:c.192T>G | ENSP00000506864.1:p.Asn64Lys | |
| ENST00000684483.1:c.192T>G | ENSP00000507894.1:p.Asn64Lys | |
| ENST00000366560.4:c.192T>G MANE Select | ENSP00000355518.4:p.Asn64Lys | |
| ENST00000366560.3:c.192T>G | ENSP00000355518.3:p.Asn64Lys | |
| ENST00000493477.1:n.305T>G | ||
| NM_000143.3:c.192T>G , LRG_504t1:c.192T>G | NP_000134.2:p.Asn64Lys | |
| XM_011544132.1:c.-37T>G | XP_011542434.1:n.-37T>G | |
| XM_011544132.2:c.-37T>G | XP_011542434.1:n.-37T>G | |
| NM_000143.4:c.192T>G MANE Select | NP_000134.2:p.Asn64Lys |