Linked Data
ClinVar Variation Id:
2170039
ClinVar RCV Id:
RCV003085135
dbSNP Id:
rs751084702
ExAC:
19:45856014 C / T
gnomAD v2:
19-45856014-C-T
gnomAD v3:
19-45352756-C-T
gnomAD v4:
19-45352756-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352756C>T , CM000681.2:g.45352756C>T | GRCh38 |
| NC_000019.9:g.45856014C>T , CM000681.1:g.45856014C>T | GRCh37 |
| NC_000019.8:g.50547854C>T | NCBI36 |
| NG_007067.2:g.22832G>A , LRG_461:g.22832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1892G>A | ENSP00000375808.4:p.Arg631His | |
| ENST00000682414.1:c.1892G>A | ENSP00000507019.1:p.Arg631His | |
| ENST00000682508.1:n.1921G>A | ||
| ENST00000684218.1:c.*1150G>A | ENSP00000507804.1:n.*1150G>A | |
| ENST00000684264.1:n.1448G>A | ||
| ENST00000684407.1:c.1769G>A | ENSP00000507775.1:p.Arg590His | |
| ENST00000684458.1:c.*378G>A | ENSP00000508260.1:n.*378G>A | |
| ENST00000684468.1:n.1604G>A | ||
| ENST00000391945.10:c.1892G>A MANE Select | ENSP00000375809.4:p.Arg631His | |
| ENST00000646507.1:n.1989G>A | ||
| ENST00000391941.6:c.1820G>A | ENSP00000375805.2:p.Arg607His | |
| ENST00000391942.6:n.1063G>A | ||
| ENST00000391944.7:c.1658G>A | ENSP00000375808.3:p.Arg553His | |
| ENST00000391945.8:c.1892G>A | ENSP00000375809.3:p.Arg631His | |
| ENST00000588652.5:n.1980G>A | ||
| NM_000400.3:c.1892G>A , LRG_461t1:c.1892G>A | NP_000391.1:p.Arg631His | |
| XM_011526611.1:c.1814G>A | XP_011524913.1:p.Arg605His | |
| XM_011526611.2:c.1814G>A | XP_011524913.1:p.Arg605His | |
| XM_017026467.1:c.1769G>A | XP_016881956.1:p.Arg590His | |
| XR_001753633.2:n.1939G>A | ||
| XR_001753634.2:n.1875G>A | ||
| NM_000400.4:c.1892G>A MANE Select | NP_000391.1:p.Arg631His |