Linked Data
dbSNP Id:
rs764250644
ExAC:
1:183177078 G / C
gnomAD v2:
1-183177078-G-C
gnomAD v3:
1-183207943-G-C
gnomAD v4:
1-183207943-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183207943G>C , CM000663.2:g.183207943G>C | GRCh38 |
| NC_000001.10:g.183177078G>C , CM000663.1:g.183177078G>C | GRCh37 |
| NC_000001.9:g.181443701G>C | NCBI36 |
| NG_007079.2:g.26680G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.142G>C MANE Select | ENSP00000264144.4:p.Gly48Arg | |
| ENST00000264144.4:c.142G>C | ENSP00000264144.4:p.Gly48Arg | |
| ENST00000493293.5:c.142G>C | ENSP00000432063.1:p.Gly48Arg | |
| NM_005562.2:c.142G>C | NP_005553.2:p.Gly48Arg | |
| NM_018891.2:c.142G>C | NP_061486.2:p.Gly48Arg | |
| XM_017001273.2:c.142G>C | XP_016856762.1:p.Gly48Arg | |
| NM_005562.3:c.142G>C MANE Select | NP_005553.2:p.Gly48Arg | |
| NM_018891.3:c.142G>C | NP_061486.2:p.Gly48Arg |