Linked Data
dbSNP Id:
rs765716268
ExAC:
7:150883686 C / T
gnomAD v2:
7-150883686-C-T
gnomAD v3:
7-151186599-C-T
gnomAD v4:
7-151186599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186599C>T , CM000669.2:g.151186599C>T | GRCh38 |
| NC_000007.13:g.150883686C>T , CM000669.1:g.150883686C>T | GRCh37 |
| NC_000007.12:g.150514619C>T | NCBI36 |
| NG_017016.1:g.6234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.377G>A MANE Select | ENSP00000391137.2:p.Arg126His | |
| ENST00000275838.5:c.377G>A | ENSP00000275838.1:p.Arg126His | |
| ENST00000377867.7:c.332G>A | ENSP00000367098.3:p.Arg111His | |
| ENST00000420175.2:c.377G>A | ENSP00000391137.2:p.Arg126His | |
| NM_001142459.1:c.377G>A | NP_001135931.2:p.Arg126His | |
| NM_001142460.1:c.377G>A | NP_001135932.2:p.Arg126His | |
| NM_080871.3:c.332G>A | NP_543147.2:p.Arg111His | |
| XM_005249949.3:c.512G>A | XP_005250006.1:p.Arg171His | |
| NM_001142459.2:c.377G>A MANE Select | NP_001135931.2:p.Arg126His | |
| NM_080871.4:c.332G>A | NP_543147.2:p.Arg111His |