Linked Data
dbSNP Id:
rs368865428
ExAC:
4:73179440 A / G
gnomAD v2:
4-73179440-A-G
gnomAD v3:
4-72313723-A-G
gnomAD v4:
4-72313723-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313723A>G , CM000666.2:g.72313723A>G | GRCh38 |
| NC_000004.11:g.73179440A>G , CM000666.1:g.73179440A>G | GRCh37 |
| NC_000004.10:g.73398304A>G | NCBI36 |
| NG_046955.1:g.260077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1699T>C MANE Select | ENSP00000286657.4:p.Cys567Arg | |
| ENST00000286657.8:c.1699T>C | ENSP00000286657.4:p.Cys567Arg | |
| ENST00000622135.1:c.1699T>C | ENSP00000480055.1:p.Cys567Arg | |
| NM_014243.2:c.1699T>C | NP_055058.2:p.Cys567Arg | |
| XM_011532421.1:c.1642T>C | XP_011530723.1:p.Cys548Arg | |
| XM_011532422.1:c.1615T>C | XP_011530724.1:p.Cys539Arg | |
| XM_011532423.1:c.1057T>C | XP_011530725.1:p.Cys353Arg | |
| XM_011532424.1:c.967T>C | XP_011530726.1:p.Cys323Arg | |
| XM_011532421.2:c.1642T>C | XP_011530723.1:p.Cys548Arg | |
| XM_011532422.3:c.1615T>C | XP_011530724.1:p.Cys539Arg | |
| NM_014243.3:c.1699T>C MANE Select | NP_055058.2:p.Cys567Arg |