Linked Data
ClinVar Variation Id:
1767126
ClinVar RCV Id:
RCV002374090
dbSNP Id:
rs753430730
gnomAD v2:
19-45867245-C-A
gnomAD v3:
19-45363987-C-A
gnomAD v4:
19-45363987-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363987C>A , CM000681.2:g.45363987C>A | GRCh38 |
| NC_000019.9:g.45867245C>A , CM000681.1:g.45867245C>A | GRCh37 |
| NC_000019.8:g.50559085C>A | NCBI36 |
| NG_007067.2:g.11601G>T , LRG_461:g.11601G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.948G>T | ENSP00000375808.4:p.Gln316His | |
| ENST00000682414.1:c.948G>T | ENSP00000507019.1:p.Gln316His | |
| ENST00000682508.1:n.977G>T | ||
| ENST00000684218.1:c.*206G>T | ENSP00000507804.1:n.*206G>T | |
| ENST00000684407.1:c.825G>T | ENSP00000507775.1:p.Gln275His | |
| ENST00000684458.1:c.948G>T | ENSP00000508260.1:p.Gln316His | |
| ENST00000391945.10:c.948G>T MANE Select | ENSP00000375809.4:p.Gln316His | |
| ENST00000586131.6:c.876G>T | ENSP00000464887.1:p.Gln292His | |
| ENST00000587376.6:c.71G>T | ||
| ENST00000646507.1:n.1045G>T | ||
| ENST00000391941.6:c.876G>T | ENSP00000375805.2:p.Gln292His | |
| ENST00000391944.7:c.714G>T | ENSP00000375808.3:p.Gln238His | |
| ENST00000391945.8:c.948G>T | ENSP00000375809.3:p.Gln316His | |
| ENST00000485403.6:c.876G>T | ENSP00000431229.2:p.Gln292His | |
| ENST00000586131.5:c.876G>T | ENSP00000464887.1:p.Gln292His | |
| ENST00000587376.5:c.71G>T | ||
| NM_000400.3:c.948G>T , LRG_461t1:c.948G>T | NP_000391.1:p.Gln316His | |
| NM_001130867.1:c.876G>T | NP_001124339.1:p.Gln292His | |
| XM_011526611.1:c.870G>T | XP_011524913.1:p.Gln290His | |
| XR_935763.1:n.995G>T | ||
| XM_011526611.2:c.870G>T | XP_011524913.1:p.Gln290His | |
| XM_017026467.1:c.825G>T | XP_016881956.1:p.Gln275His | |
| XR_001753633.2:n.995G>T | ||
| XR_001753634.2:n.995G>T | ||
| NM_000400.4:c.948G>T MANE Select | NP_000391.1:p.Gln316His | |
| NM_001130867.2:c.876G>T | NP_001124339.1:p.Gln292His |