Linked Data
ClinVar Variation Id:
2317148
ClinVar RCV Id:
RCV002897865
dbSNP Id:
rs1202960802
gnomAD v2:
19-7184406-G-C
gnomAD v4:
19-7184395-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7184395G>C , CM000681.2:g.7184395G>C | GRCh38 |
| NC_000019.9:g.7184406G>C , CM000681.1:g.7184406G>C | GRCh37 |
| NC_000019.8:g.7135406G>C | NCBI36 |
| NG_008852.2:g.114606C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.895C>G MANE Select | ENSP00000303830.4:p.Gln299Glu | |
| ENST00000302850.9:c.895C>G | ENSP00000303830.4:p.Gln299Glu | |
| ENST00000341500.9:c.895C>G | ENSP00000342838.4:p.Gln299Glu | |
| ENST00000598216.1:n.870C>G | ||
| NM_000208.2:c.895C>G | NP_000199.2:p.Gln299Glu | |
| NM_000208.3:c.895C>G | NP_000199.2:p.Gln299Glu | |
| NM_001079817.1:c.895C>G | NP_001073285.1:p.Gln299Glu | |
| NM_001079817.2:c.895C>G | NP_001073285.1:p.Gln299Glu | |
| XM_011527988.1:c.973C>G | XP_011526290.1:p.Gln325Glu | |
| XM_011527989.1:c.973C>G | XP_011526291.1:p.Gln325Glu | |
| XM_011527988.2:c.895C>G | XP_011526290.2:p.Gln299Glu | |
| XM_011527989.3:c.895C>G | XP_011526291.2:p.Gln299Glu | |
| NM_000208.4:c.895C>G MANE Select | NP_000199.2:p.Gln299Glu | |
| NM_001079817.3:c.895C>G | NP_001073285.1:p.Gln299Glu |