Linked Data
ClinVar Variation Id:
35914
dbSNP Id:
rs193922150
ExAC:
17:48267239 C / T
gnomAD v2:
17-48267239-C-T
gnomAD v3:
17-50189878-C-T
gnomAD v4:
17-50189878-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189878C>T , CM000679.2:g.50189878C>T | GRCh38 |
| NC_000017.10:g.48267239C>T , CM000679.1:g.48267239C>T | GRCh37 |
| NC_000017.9:g.45622238C>T | NCBI36 |
| NG_007400.1:g.16762G>A , LRG_1:g.16762G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.2594G>A MANE Select | ENSP00000225964.6:p.Arg865His | |
| ENST00000225964.9:c.2594G>A | ENSP00000225964.5:p.Arg865His | |
| NM_000088.3:c.2594G>A , LRG_1t1:c.2594G>A | NP_000079.2:p.Arg865His | |
| XM_005257058.3:c.2594G>A | XP_005257115.2:p.Arg865His | |
| XM_005257059.3:c.1676G>A | XP_005257116.2:p.Arg559His | |
| XM_011524341.1:c.2396G>A | XP_011522643.1:p.Arg799His | |
| XM_005257058.4:c.2594G>A | XP_005257115.2:p.Arg865His | |
| XM_005257059.4:c.1676G>A | XP_005257116.2:p.Arg559His | |
| NM_000088.4:c.2594G>A MANE Select | NP_000079.2:p.Arg865His |