Linked Data
ClinVar Variation Id:
541140
ClinVar RCV Id:
RCV000651348
dbSNP Id:
rs780229198
ExAC:
20:17475315 C / G
gnomAD v2:
20-17475315-C-G
gnomAD v3:
20-17494670-C-G
gnomAD v4:
20-17494670-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17494670C>G , CM000682.2:g.17494670C>G | GRCh38 |
| NC_000020.10:g.17475315C>G , CM000682.1:g.17475315C>G | GRCh37 |
| NC_000020.9:g.17423315C>G | NCBI36 |
| NG_012423.2:g.79551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.1402G>C MANE Select | ENSP00000367104.3:p.Glu468Gln | |
| ENST00000536626.7:c.985G>C | ENSP00000442522.1:p.Glu329Gln | |
| ENST00000377868.6:c.1027G>C | ENSP00000367099.2:p.Glu343Gln | |
| ENST00000377873.7:c.1402G>C | ENSP00000367104.3:p.Glu468Gln | |
| ENST00000536626.5:c.985G>C | ENSP00000442522.1:p.Glu329Gln | |
| NM_001161705.1:c.1027G>C | NP_001155177.1:p.Glu343Gln | |
| NM_001195.4:c.1402G>C | NP_001186.1:p.Glu468Gln | |
| NM_001278606.1:c.985G>C | NP_001265535.1:p.Glu329Gln | |
| NM_001278607.1:c.1069G>C | NP_001265536.1:p.Glu357Gln | |
| NM_001278608.1:c.985G>C | NP_001265537.1:p.Glu329Gln | |
| XM_011529312.1:c.985G>C | XP_011527614.1:p.Glu329Gln | |
| XM_017028005.2:c.1294G>C | XP_016883494.1:p.Glu432Gln | |
| NM_001195.5:c.1402G>C MANE Select | NP_001186.1:p.Glu468Gln | |
| NM_001161705.2:c.1027G>C | NP_001155177.1:p.Glu343Gln | |
| NM_001278606.2:c.985G>C | NP_001265535.1:p.Glu329Gln | |
| NM_001278607.2:c.1069G>C | NP_001265536.1:p.Glu357Gln | |
| NM_001278608.2:c.985G>C | NP_001265537.1:p.Glu329Gln |