Linked Data
ClinVar Variation Id:
283336
dbSNP Id:
rs370775804
ExAC:
21:47544578 C / T
gnomAD v2:
21-47544578-C-T
gnomAD v3:
21-46124664-C-T
gnomAD v4:
21-46124664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46124664C>T , CM000683.2:g.46124664C>T | GRCh38 |
| NC_000021.8:g.47544578C>T , CM000683.1:g.47544578C>T | GRCh37 |
| NC_000021.7:g.46369006C>T | NCBI36 |
| NG_008675.1:g.31546C>T , LRG_476:g.31546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1685C>T MANE Plus Clinical | ENSP00000380870.1:p.Pro562Leu | |
| ENST00000300527.9:c.1685C>T MANE Select | ENSP00000300527.4:p.Pro562Leu | |
| ENST00000409416.6:c.1685C>T | ENSP00000387115.1:p.Pro562Leu | |
| ENST00000300527.8:c.1685C>T | ENSP00000300527.4:p.Pro562Leu | |
| ENST00000310645.9:c.1685C>T | ENSP00000312529.5:p.Pro562Leu | |
| ENST00000397763.5:c.1685C>T | ENSP00000380870.1:p.Pro562Leu | |
| ENST00000409416.5:c.1685C>T | ENSP00000387115.1:p.Pro562Leu | |
| ENST00000413758.1:c.308C>T | ENSP00000395751.1:p.Pro103Leu | |
| NM_001849.3:c.1685C>T , LRG_476t1:c.1685C>T | NP_001840.3:p.Pro562Leu | |
| NM_058174.2:c.1685C>T | NP_478054.2:p.Pro562Leu | |
| NM_058175.2:c.1685C>T | NP_478055.2:p.Pro562Leu | |
| XM_011529451.1:c.1685C>T | XP_011527753.1:p.Pro562Leu | |
| XM_011529452.1:c.1685C>T | XP_011527754.1:p.Pro562Leu | |
| XR_937438.1:n.1808C>T | ||
| XR_937439.1:n.1808C>T | ||
| XR_937438.2:n.1815C>T | ||
| XR_937439.2:n.1815C>T | ||
| NM_001849.4:c.1685C>T MANE Select | NP_001840.3:p.Pro562Leu | |
| NM_058174.3:c.1685C>T MANE Plus Clinical | NP_478054.2:p.Pro562Leu | |
| NM_058175.3:c.1685C>T | NP_478055.2:p.Pro562Leu |