Linked Data
ClinVar Variation Id:
2421480
ClinVar RCV Id:
RCV003115781
dbSNP Id:
rs1253027478
gnomAD v2:
19-45867297-C-T
gnomAD v4:
19-45364039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364039C>T , CM000681.2:g.45364039C>T | GRCh38 |
| NC_000019.9:g.45867297C>T , CM000681.1:g.45867297C>T | GRCh37 |
| NC_000019.8:g.50559137C>T | NCBI36 |
| NG_007067.2:g.11549G>A , LRG_461:g.11549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.896G>A | ENSP00000375808.4:p.Arg299Gln | |
| ENST00000682414.1:c.896G>A | ENSP00000507019.1:p.Arg299Gln | |
| ENST00000682508.1:n.925G>A | ||
| ENST00000684218.1:c.*154G>A | ENSP00000507804.1:n.*154G>A | |
| ENST00000684407.1:c.773G>A | ENSP00000507775.1:p.Arg258Gln | |
| ENST00000684458.1:c.896G>A | ENSP00000508260.1:p.Arg299Gln | |
| ENST00000391945.10:c.896G>A MANE Select | ENSP00000375809.4:p.Arg299Gln | |
| ENST00000586131.6:c.824G>A | ENSP00000464887.1:p.Arg275Gln | |
| ENST00000587376.6:c.19G>A | ||
| ENST00000646507.1:n.993G>A | ||
| ENST00000391941.6:c.824G>A | ENSP00000375805.2:p.Arg275Gln | |
| ENST00000391944.7:c.662G>A | ENSP00000375808.3:p.Arg221Gln | |
| ENST00000391945.8:c.896G>A | ENSP00000375809.3:p.Arg299Gln | |
| ENST00000485403.6:c.824G>A | ENSP00000431229.2:p.Arg275Gln | |
| ENST00000586131.5:c.824G>A | ENSP00000464887.1:p.Arg275Gln | |
| ENST00000587376.5:c.19G>A | ||
| ENST00000591309.5:c.*154G>A | ENSP00000465207.1:n.*154G>A | |
| NM_000400.3:c.896G>A , LRG_461t1:c.896G>A | NP_000391.1:p.Arg299Gln | |
| NM_001130867.1:c.824G>A | NP_001124339.1:p.Arg275Gln | |
| XM_011526611.1:c.818G>A | XP_011524913.1:p.Arg273Gln | |
| XR_935763.1:n.943G>A | ||
| XM_011526611.2:c.818G>A | XP_011524913.1:p.Arg273Gln | |
| XM_017026467.1:c.773G>A | XP_016881956.1:p.Arg258Gln | |
| XR_001753633.2:n.943G>A | ||
| XR_001753634.2:n.943G>A | ||
| NM_000400.4:c.896G>A MANE Select | NP_000391.1:p.Arg299Gln | |
| NM_001130867.2:c.824G>A | NP_001124339.1:p.Arg275Gln |