Linked Data
ClinVar Variation Id:
2849469
ClinVar RCV Id:
RCV003616744
dbSNP Id:
rs374664442
ExAC:
20:17474841 C / T
gnomAD v2:
20-17474841-C-T
gnomAD v3:
20-17494196-C-T
gnomAD v4:
20-17494196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17494196C>T , CM000682.2:g.17494196C>T | GRCh38 |
| NC_000020.10:g.17474841C>T , CM000682.1:g.17474841C>T | GRCh37 |
| NC_000020.9:g.17422841C>T | NCBI36 |
| NG_012423.2:g.80025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.1876G>A MANE Select | ENSP00000367104.3:p.Glu626Lys | |
| ENST00000536626.7:c.1459G>A | ENSP00000442522.1:p.Glu487Lys | |
| ENST00000377868.6:c.1501G>A | ENSP00000367099.2:p.Glu501Lys | |
| ENST00000377873.7:c.1876G>A | ENSP00000367104.3:p.Glu626Lys | |
| ENST00000536626.5:c.1459G>A | ENSP00000442522.1:p.Glu487Lys | |
| NM_001161705.1:c.1501G>A | NP_001155177.1:p.Glu501Lys | |
| NM_001195.4:c.1876G>A | NP_001186.1:p.Glu626Lys | |
| NM_001278606.1:c.1459G>A | NP_001265535.1:p.Glu487Lys | |
| NM_001278607.1:c.1543G>A | NP_001265536.1:p.Glu515Lys | |
| NM_001278608.1:c.1459G>A | NP_001265537.1:p.Glu487Lys | |
| XM_011529312.1:c.1459G>A | XP_011527614.1:p.Glu487Lys | |
| XM_017028005.2:c.1768G>A | XP_016883494.1:p.Glu590Lys | |
| NM_001195.5:c.1876G>A MANE Select | NP_001186.1:p.Glu626Lys | |
| NM_001161705.2:c.1501G>A | NP_001155177.1:p.Glu501Lys | |
| NM_001278606.2:c.1459G>A | NP_001265535.1:p.Glu487Lys | |
| NM_001278607.2:c.1543G>A | NP_001265536.1:p.Glu515Lys | |
| NM_001278608.2:c.1459G>A | NP_001265537.1:p.Glu487Lys |