Linked Data
dbSNP Id:
rs550545818
ExAC:
1:173826738 T / C
gnomAD v2:
1-173826738-T-C
gnomAD v3:
1-173857600-T-C
gnomAD v4:
1-173857600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173857600T>C , CM000663.2:g.173857600T>C | GRCh38 |
| NC_000001.10:g.173826738T>C , CM000663.1:g.173826738T>C | GRCh37 |
| NC_000001.9:g.172093361T>C | NCBI36 |
| NG_016138.1:g.37942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471476.2:c.*1412T>C | ENSP00000497663.1:n.*1412T>C | |
| ENST00000647645.1:c.1770T>C | ENSP00000497450.1:p.His590= | |
| ENST00000647730.1:c.*1523T>C | ENSP00000497781.1:n.*1523T>C | |
| ENST00000647788.1:c.*977T>C | ENSP00000497769.1:n.*977T>C | |
| ENST00000648271.1:c.*2299T>C | ENSP00000497795.1:n.*2299T>C | |
| ENST00000648807.1:c.1680T>C | ENSP00000497472.1:p.His560= | |
| ENST00000648960.1:c.1350T>C | ENSP00000497091.1:p.His450= | |
| ENST00000649067.1:c.*836T>C | ENSP00000497052.1:n.*836T>C | |
| ENST00000649689.2:c.1833T>C MANE Select | ENSP00000497569.1:p.His611= | |
| ENST00000361951.4:c.1833T>C | ENSP00000355086.4:p.His611= | |
| ENST00000471476.1:n.655T>C | ||
| NM_018122.4:c.1833T>C | NP_060592.2:p.His611= | |
| XM_006711427.2:c.1680T>C | XP_006711490.1:p.His560= | |
| NM_001365212.1:c.1680T>C | NP_001352141.1:p.His560= | |
| NM_018122.5:c.1833T>C MANE Select | NP_060592.2:p.His611= |