Linked Data
ClinVar Variation Id:
288611
dbSNP Id:
rs757846451
ExAC:
21:47540444 G / C
gnomAD v2:
21-47540444-G-C
gnomAD v3:
21-46120530-G-C
gnomAD v4:
21-46120530-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46120530G>C , CM000683.2:g.46120530G>C | GRCh38 |
| NC_000021.8:g.47540444G>C , CM000683.1:g.47540444G>C | GRCh37 |
| NC_000021.7:g.46364872G>C | NCBI36 |
| NG_008675.1:g.27412G>C , LRG_476:g.27412G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1348G>C MANE Plus Clinical | ENSP00000380870.1:p.Glu450Gln | |
| ENST00000300527.9:c.1348G>C MANE Select | ENSP00000300527.4:p.Glu450Gln | |
| ENST00000409416.6:c.1348G>C | ENSP00000387115.1:p.Glu450Gln | |
| ENST00000300527.8:c.1348G>C | ENSP00000300527.4:p.Glu450Gln | |
| ENST00000310645.9:c.1348G>C | ENSP00000312529.5:p.Glu450Gln | |
| ENST00000397763.5:c.1348G>C | ENSP00000380870.1:p.Glu450Gln | |
| ENST00000409416.5:c.1348G>C | ENSP00000387115.1:p.Glu450Gln | |
| NM_001849.3:c.1348G>C , LRG_476t1:c.1348G>C | NP_001840.3:p.Glu450Gln | |
| NM_058174.2:c.1348G>C | NP_478054.2:p.Glu450Gln | |
| NM_058175.2:c.1348G>C | NP_478055.2:p.Glu450Gln | |
| XM_011529451.1:c.1348G>C | XP_011527753.1:p.Glu450Gln | |
| XM_011529452.1:c.1348G>C | XP_011527754.1:p.Glu450Gln | |
| XR_937438.1:n.1471G>C | ||
| XR_937439.1:n.1471G>C | ||
| XR_937438.2:n.1478G>C | ||
| XR_937439.2:n.1478G>C | ||
| NM_001849.4:c.1348G>C MANE Select | NP_001840.3:p.Glu450Gln | |
| NM_058174.3:c.1348G>C MANE Plus Clinical | NP_478054.2:p.Glu450Gln | |
| NM_058175.3:c.1348G>C | NP_478055.2:p.Glu450Gln |