Linked Data
ClinVar Variation Id:
626987
ClinVar RCV Id:
RCV000851680
dbSNP Id:
rs373212439
ExAC:
4:187206815 G / A
gnomAD v2:
4-187206815-G-A
gnomAD v3:
4-186285661-G-A
gnomAD v4:
4-186285661-G-A
COSMIC:
COSM1053951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285661G>A , CM000666.2:g.186285661G>A | GRCh38 |
| NC_000004.11:g.187206815G>A , CM000666.1:g.187206815G>A | GRCh37 |
| NC_000004.10:g.187443809G>A | NCBI36 |
| NG_008051.1:g.24698G>A , LRG_583:g.24698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1328G>A MANE Select | ENSP00000384957.2:p.Arg443His | |
| ENST00000264691.4:c.24G>A | ||
| ENST00000264692.8:c.1166G>A | ENSP00000264692.5:p.Arg389His | |
| ENST00000403665.6:c.1328G>A | ENSP00000384957.2:p.Arg443His | |
| NM_000128.3:c.1328G>A , LRG_583t1:c.1328G>A | NP_000119.1:p.Arg443His | |
| XM_005262821.2:c.1331G>A | XP_005262878.1:p.Arg444His | |
| XM_005262822.2:c.1331G>A | XP_005262879.1:p.Arg444His | |
| XM_005262823.2:c.1061G>A | XP_005262880.1:p.Arg354His | |
| XM_005262824.1:c.1331G>A | XP_005262881.1:p.Arg444His | |
| XM_006714137.1:c.1283G>A | XP_006714200.1:p.Arg428His | |
| XR_938706.1:n.1736G>A | ||
| XR_938707.1:n.1736G>A | ||
| XM_005262821.4:c.1331G>A | XP_005262878.1:p.Arg444His | |
| XM_005262822.4:c.1331G>A | XP_005262879.1:p.Arg444His | |
| XM_005262823.4:c.1061G>A | XP_005262880.1:p.Arg354His | |
| XM_006714137.3:c.1283G>A | XP_006714200.1:p.Arg428His | |
| XR_001741172.2:n.1802G>A | ||
| NM_000128.4:c.1328G>A MANE Select | NP_000119.1:p.Arg443His |