Linked Data
ClinVar Variation Id:
1405698
dbSNP Id:
rs201993620
ExAC:
1:120458305 C / T
gnomAD v2:
1-120458305-C-T
gnomAD v3:
1-119915682-C-T
gnomAD v4:
1-119915682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915682C>T , CM000663.2:g.119915682C>T | GRCh38 |
| NC_000001.10:g.120458305C>T , CM000663.1:g.120458305C>T | GRCh37 |
| NC_000001.9:g.120259828C>T | NCBI36 |
| NG_008163.1:g.158972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7040G>A MANE Select | ENSP00000256646.2:p.Arg2347His | |
| ENST00000256646.6:c.7040G>A | ENSP00000256646.2:p.Arg2347His | |
| NM_024408.3:c.7040G>A | NP_077719.2:p.Arg2347His | |
| XM_005270901.2:c.6923G>A | XP_005270958.1:p.Arg2308His | |
| XM_011541519.1:c.7028G>A | XP_011539821.1:p.Arg2343His | |
| XM_011541520.1:c.6923G>A | XP_011539822.1:p.Arg2308His | |
| NM_024408.4:c.7040G>A MANE Select | NP_077719.2:p.Arg2347His |