Linked Data
dbSNP Id:
rs377163219
ExAC:
4:73179412 C / T
gnomAD v2:
4-73179412-C-T
gnomAD v3:
4-72313695-C-T
gnomAD v4:
4-72313695-C-T
COSMIC:
COSM1637017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313695C>T , CM000666.2:g.72313695C>T | GRCh38 |
| NC_000004.11:g.73179412C>T , CM000666.1:g.73179412C>T | GRCh37 |
| NC_000004.10:g.73398276C>T | NCBI36 |
| NG_046955.1:g.260105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1727G>A MANE Select | ENSP00000286657.4:p.Arg576His | |
| ENST00000286657.8:c.1727G>A | ENSP00000286657.4:p.Arg576His | |
| ENST00000622135.1:c.1727G>A | ENSP00000480055.1:p.Arg576His | |
| NM_014243.2:c.1727G>A | NP_055058.2:p.Arg576His | |
| XM_011532421.1:c.1670G>A | XP_011530723.1:p.Arg557His | |
| XM_011532422.1:c.1643G>A | XP_011530724.1:p.Arg548His | |
| XM_011532423.1:c.1085G>A | XP_011530725.1:p.Arg362His | |
| XM_011532424.1:c.995G>A | XP_011530726.1:p.Arg332His | |
| XM_011532421.2:c.1670G>A | XP_011530723.1:p.Arg557His | |
| XM_011532422.3:c.1643G>A | XP_011530724.1:p.Arg548His | |
| NM_014243.3:c.1727G>A MANE Select | NP_055058.2:p.Arg576His |