Linked Data
dbSNP Id:
rs140914273
ExAC:
4:73179424 C / T
gnomAD v2:
4-73179424-C-T
gnomAD v3:
4-72313707-C-T
gnomAD v4:
4-72313707-C-T
COSMIC:
COSM2830822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313707C>T , CM000666.2:g.72313707C>T | GRCh38 |
| NC_000004.11:g.73179424C>T , CM000666.1:g.73179424C>T | GRCh37 |
| NC_000004.10:g.73398288C>T | NCBI36 |
| NG_046955.1:g.260093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1715G>A MANE Select | ENSP00000286657.4:p.Arg572His | |
| ENST00000286657.8:c.1715G>A | ENSP00000286657.4:p.Arg572His | |
| ENST00000622135.1:c.1715G>A | ENSP00000480055.1:p.Arg572His | |
| NM_014243.2:c.1715G>A | NP_055058.2:p.Arg572His | |
| XM_011532421.1:c.1658G>A | XP_011530723.1:p.Arg553His | |
| XM_011532422.1:c.1631G>A | XP_011530724.1:p.Arg544His | |
| XM_011532423.1:c.1073G>A | XP_011530725.1:p.Arg358His | |
| XM_011532424.1:c.983G>A | XP_011530726.1:p.Arg328His | |
| XM_011532421.2:c.1658G>A | XP_011530723.1:p.Arg553His | |
| XM_011532422.3:c.1631G>A | XP_011530724.1:p.Arg544His | |
| NM_014243.3:c.1715G>A MANE Select | NP_055058.2:p.Arg572His |