Linked Data
ClinVar Variation Id:
425842
dbSNP Id:
rs200948870
ExAC:
2:203384865 G / A
gnomAD v2:
2-203384865-G-A
gnomAD v3:
2-202520142-G-A
gnomAD v4:
2-202520142-G-A
ERepo:
CA2061247/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520142G>A , CM000664.2:g.202520142G>A | GRCh38 |
| NC_000002.11:g.203384865G>A , CM000664.1:g.203384865G>A | GRCh37 |
| NC_000002.10:g.203093110G>A | NCBI36 |
| NG_009363.1:g.148816G>A , LRG_712:g.148816G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.908G>A MANE Select | ENSP00000363708.4:p.Arg303His | |
| ENST00000638587.1:c.839G>A | ENSP00000491062.1:p.Arg280His | |
| ENST00000374574.2:c.908G>A | ENSP00000363702.2:p.Arg303His | |
| ENST00000374580.8:c.908G>A | ENSP00000363708.4:p.Arg303His | |
| NM_001204.6:c.908G>A , LRG_712t1:c.908G>A | NP_001195.2:p.Arg303His | |
| XM_011511687.1:c.908G>A | XP_011509989.1:p.Arg303His | |
| XM_011511688.1:c.908G>A | XP_011509990.1:p.Arg303His | |
| NM_001204.7:c.908G>A MANE Select | NP_001195.2:p.Arg303His |