Linked Data
ClinVar Variation Id:
469421
ClinVar RCV Id:
RCV000526899
dbSNP Id:
rs1555201269
gnomAD v4:
12-41027941-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.41027941C>A , CM000674.2:g.41027941C>A | GRCh38 |
| NC_000012.11:g.41421743C>A , CM000674.1:g.41421743C>A | GRCh37 |
| NC_000012.10:g.39708010C>A | NCBI36 |
| NG_012058.2:g.340386C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551295.7:c.2795C>A MANE Select | ENSP00000447006.1:p.Ser932Ter | |
| ENST00000347616.5:c.2795C>A | ENSP00000325660.3:p.Ser932Ter | |
| ENST00000348761.2:c.2762C>A | ENSP00000261160.3:p.Ser921Ter | |
| ENST00000551295.6:c.2795C>A | ENSP00000447006.1:p.Ser932Ter | |
| NM_001843.3:c.2795C>A | NP_001834.2:p.Ser932Ter | |
| NM_175038.2:c.2762C>A | NP_778203.1:p.Ser921Ter | |
| XM_005268651.1:c.2795C>A | XP_005268708.1:p.Ser932Ter | |
| XM_006719241.1:c.2795C>A | XP_006719304.1:p.Ser932Ter | |
| XM_011537926.1:c.2795C>A | XP_011536228.1:p.Ser932Ter | |
| XM_011537927.1:c.2795C>A | XP_011536229.1:p.Ser932Ter | |
| XM_005268651.2:c.2795C>A | XP_005268708.1:p.Ser932Ter | |
| XM_006719241.2:c.2795C>A | XP_006719304.1:p.Ser932Ter | |
| XM_011537926.3:c.2795C>A | XP_011536228.1:p.Ser932Ter | |
| XM_011537927.2:c.2795C>A | XP_011536229.1:p.Ser932Ter | |
| XR_002957288.1:n.3017C>A | ||
| XR_002957289.1:n.3138C>A | ||
| XR_002957290.1:n.3385C>A | ||
| XR_002957291.1:n.3009C>A | ||
| NM_001843.4:c.2795C>A MANE Select | NP_001834.2:p.Ser932Ter |