Linked Data
ClinVar Variation Id:
1931318
ClinVar RCV Id:
RCV002605489
dbSNP Id:
rs1187210969
gnomAD v2:
X-107840793-G-C
gnomAD v3:
X-108597563-G-C
gnomAD v4:
X-108597563-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108597563G>C , CM000685.2:g.108597563G>C | GRCh38 |
| NC_000023.10:g.107840793G>C , CM000685.1:g.107840793G>C | GRCh37 |
| NC_000023.9:g.107727449G>C | NCBI36 |
| NG_011977.1:g.162640G>C | |
| NG_011977.2:g.162640G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.1774G>C MANE Select | ENSP00000331902.7:p.Glu592Gln | |
| ENST00000361603.7:c.1774G>C | ENSP00000354505.2:p.Glu592Gln | |
| ENST00000328300.10:c.1774G>C | ENSP00000331902.6:p.Glu592Gln | |
| ENST00000361603.6:c.1774G>C | ENSP00000354505.2:p.Glu592Gln | |
| ENST00000483338.1:n.1230G>C | ||
| NM_000495.4:c.1774G>C | NP_000486.1:p.Glu592Gln | |
| NM_033380.2:c.1774G>C | NP_203699.1:p.Glu592Gln | |
| XM_005262070.2:c.1774G>C | XP_005262127.1:p.Glu592Gln | |
| XM_005262072.3:c.1774G>C | XP_005262129.1:p.Glu592Gln | |
| XM_006724616.2:c.1774G>C | XP_006724679.1:p.Glu592Gln | |
| XM_011530849.1:c.1450G>C | XP_011529151.1:p.Glu484Gln | |
| XM_011530850.1:c.1774G>C | XP_011529152.1:p.Glu592Gln | |
| XM_011530849.2:c.1789G>C | XP_011529151.2:p.Glu597Gln | |
| XM_017029259.2:c.1789G>C | XP_016884748.1:p.Glu597Gln | |
| XM_017029260.1:c.1789G>C | XP_016884749.1:p.Glu597Gln | |
| XM_017029261.1:c.1789G>C | XP_016884750.1:p.Glu597Gln | |
| XM_017029262.2:c.1789G>C | XP_016884751.1:p.Glu597Gln | |
| XM_017029263.2:c.109G>C | XP_016884752.1:p.Glu37Gln | |
| NM_000495.5:c.1774G>C | NP_000486.1:p.Glu592Gln | |
| NM_033380.3:c.1774G>C MANE Select | NP_203699.1:p.Glu592Gln |