Linked Data
dbSNP Id:
rs200918740
ExAC:
7:128588733 G / A
gnomAD v2:
7-128588733-G-A
gnomAD v3:
7-128948679-G-A
gnomAD v4:
7-128948679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128948679G>A , CM000669.2:g.128948679G>A | GRCh38 |
| NC_000007.13:g.128588733G>A , CM000669.1:g.128588733G>A | GRCh37 |
| NC_000007.12:g.128375969G>A | NCBI36 |
| NG_012306.1:g.15740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700148.1:n.1642G>A | ||
| ENST00000700151.1:n.3908G>A | ||
| ENST00000700152.1:n.3448G>A | ||
| ENST00000700153.1:n.2822G>A | ||
| ENST00000700154.1:n.986G>A | ||
| ENST00000357234.10:c.1406G>A MANE Select | ENSP00000349770.5:p.Arg469His | |
| ENST00000489702.6:c.1406G>A | ENSP00000418037.2:p.Arg469His | |
| ENST00000249375.8:c.1358G>A | ENSP00000249375.4:p.Arg453His | |
| ENST00000357234.9:c.1406G>A | ENSP00000349770.5:p.Arg469His | |
| ENST00000402030.6:c.1358G>A | ENSP00000385352.2:p.Arg453His | |
| ENST00000465603.5:c.*886G>A | ENSP00000418534.1:n.*886G>A | |
| ENST00000473745.5:c.1358G>A | ENSP00000419149.1:p.Arg453His | |
| ENST00000477535.5:c.1100G>A | ENSP00000419950.1:p.Arg367His | |
| ENST00000619830.1:c.*856G>A | ENSP00000483292.1:n.*856G>A | |
| NM_001098627.3:c.1358G>A | NP_001092097.2:p.Arg453His | |
| NM_001098629.2:c.1406G>A | NP_001092099.1:p.Arg469His | |
| NM_001098630.2:c.1358G>A | NP_001092100.1:p.Arg453His | |
| NM_001242452.2:c.1100G>A | NP_001229381.1:p.Arg367His | |
| NM_032643.4:c.1358G>A | NP_116032.1:p.Arg453His | |
| XM_005250317.2:c.1406G>A | XP_005250374.1:p.Arg469His | |
| XM_006715974.2:c.1406G>A | XP_006716037.1:p.Arg469His | |
| XM_011516158.1:c.1406G>A | XP_011514460.1:p.Arg469His | |
| XM_011516159.1:c.1406G>A | XP_011514461.1:p.Arg469His | |
| XM_011516160.1:c.1406G>A | XP_011514462.1:p.Arg469His | |
| XM_011516161.1:c.1376G>A | XP_011514463.1:p.Arg459His | |
| XM_011516162.1:c.1328G>A | XP_011514464.1:p.Arg443His | |
| XM_011516163.1:c.1328G>A | XP_011514465.1:p.Arg443His | |
| XM_011516164.1:c.1328G>A | XP_011514466.1:p.Arg443His | |
| NM_001347928.1:c.1406G>A | NP_001334857.1:p.Arg469His | |
| NM_001364314.1:c.1406G>A | NP_001351243.1:p.Arg469His | |
| XM_011516158.3:c.1406G>A | XP_011514460.1:p.Arg469His | |
| XM_011516159.3:c.1406G>A | XP_011514461.1:p.Arg469His | |
| NM_001098629.3:c.1406G>A MANE Select | NP_001092099.1:p.Arg469His | |
| NM_001098630.3:c.1358G>A | NP_001092100.1:p.Arg453His | |
| NM_001242452.3:c.1100G>A | NP_001229381.1:p.Arg367His | |
| NM_001347928.2:c.1406G>A | NP_001334857.1:p.Arg469His | |
| NM_001364314.2:c.1406G>A | NP_001351243.1:p.Arg469His | |
| NM_001098627.4:c.1358G>A | NP_001092097.2:p.Arg453His | |
| NM_032643.5:c.1358G>A | NP_116032.1:p.Arg453His |