Linked Data
ClinVar Variation Id:
2676872
ClinVar RCV Id:
RCV003461988
dbSNP Id:
rs748533060
ExAC:
5:7878251 C / G
gnomAD v2:
5-7878251-C-G
gnomAD v4:
5-7878138-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7878138C>G , CM000667.2:g.7878138C>G | GRCh38 |
| NC_000005.9:g.7878251C>G , CM000667.1:g.7878251C>G | GRCh37 |
| NC_000005.8:g.7931251C>G | NCBI36 |
| NG_008856.1:g.14035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.596C>G MANE Select | ENSP00000402510.2:p.Ser199Ter | |
| ENST00000264668.6:c.677C>G | ENSP00000264668.2:p.Ser226Ter | |
| ENST00000440940.6:c.596C>G | ENSP00000402510.2:p.Ser199Ter | |
| ENST00000510279.5:c.*265C>G | ENSP00000427200.1:n.*265C>G | |
| ENST00000510525.5:c.621C>G | ||
| ENST00000511461.5:c.509C>G | ||
| ENST00000513439.5:c.*303C>G | ENSP00000426710.1:n.*303C>G | |
| ENST00000514220.5:c.381C>G | ||
| ENST00000514369.5:c.*260C>G | ENSP00000426132.1:n.*260C>G | |
| NM_002454.2:c.596C>G | NP_002445.2:p.Ser199Ter | |
| NM_024010.2:c.677C>G | NP_076915.2:p.Ser226Ter | |
| XM_006714474.2:c.677C>G | XP_006714537.1:p.Ser226Ter | |
| XM_011514043.1:c.677C>G | XP_011512345.1:p.Ser226Ter | |
| XM_011514044.1:c.596C>G | XP_011512346.1:p.Ser199Ter | |
| XM_011514045.1:c.677C>G | XP_011512347.1:p.Ser226Ter | |
| XR_241702.1:n.699C>G | ||
| XR_241703.1:n.692C>G | ||
| XR_925614.1:n.699C>G | ||
| XR_925615.1:n.699C>G | ||
| NM_001364440.1:c.596C>G | NP_001351369.1:p.Ser199Ter | |
| NM_001364441.1:c.596C>G | NP_001351370.1:p.Ser199Ter | |
| NM_001364442.1:c.596C>G | NP_001351371.1:p.Ser199Ter | |
| NM_024010.3:c.596C>G | NP_076915.3:p.Ser199Ter | |
| NR_134480.1:n.719C>G | ||
| NR_134481.1:n.733C>G | ||
| NR_134482.1:n.579C>G | ||
| NR_157168.1:n.649C>G | ||
| NR_157169.1:n.509C>G | ||
| NR_157170.1:n.535C>G | ||
| NR_157171.1:n.509C>G | ||
| NR_157172.1:n.535C>G | ||
| NR_157173.1:n.663C>G | ||
| NR_157174.1:n.535C>G | ||
| NR_157175.1:n.689C>G | ||
| NR_157176.1:n.689C>G | ||
| NR_157177.1:n.684C>G | ||
| NR_157178.1:n.689C>G | ||
| XM_024446063.1:c.641C>G | XP_024301831.1:p.Ser214Ter | |
| XM_024446064.1:c.596C>G | XP_024301832.1:p.Ser199Ter | |
| XR_001742071.1:n.699C>G | ||
| XR_001742072.1:n.699C>G | ||
| XR_001742074.1:n.699C>G | ||
| XR_001742075.1:n.699C>G | ||
| XR_001742076.1:n.699C>G | ||
| XR_001742077.1:n.699C>G | ||
| NM_001364440.2:c.596C>G | NP_001351369.1:p.Ser199Ter | |
| NM_001364441.2:c.596C>G | NP_001351370.1:p.Ser199Ter | |
| NM_001364442.2:c.596C>G | NP_001351371.1:p.Ser199Ter | |
| NM_002454.3:c.596C>G MANE Select | NP_002445.2:p.Ser199Ter | |
| NM_024010.4:c.596C>G | NP_076915.3:p.Ser199Ter | |
| NR_134480.2:n.675C>G | ||
| NR_134481.2:n.689C>G | ||
| NR_134482.2:n.535C>G | ||
| NR_157168.2:n.649C>G | ||
| NR_157169.2:n.509C>G | ||
| NR_157170.2:n.535C>G | ||
| NR_157171.2:n.509C>G | ||
| NR_157172.2:n.535C>G | ||
| NR_157173.2:n.663C>G | ||
| NR_157174.2:n.535C>G | ||
| NR_157175.2:n.689C>G | ||
| NR_157176.2:n.689C>G | ||
| NR_157177.2:n.684C>G | ||
| NR_157178.2:n.689C>G |