Linked Data
ClinVar Variation Id:
39474
ClinVar RCV Id:
RCV000032670
dbSNP Id:
rs397514509
PubMed:
PMID:23273567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72229116C>A , CM000673.2:g.72229116C>A | GRCh38 |
| NC_000011.9:g.71940160C>A , CM000673.1:g.71940160C>A | GRCh37 |
| NC_000011.8:g.71617808C>A | NCBI36 |
| NG_023253.1:g.9279C>A | |
| NG_023253.2:g.9279C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.545C>A MANE Select | ENSP00000298229.2:p.Ser182Ter | |
| ENST00000298229.6:c.545C>A | ENSP00000298229.2:p.Ser182Ter | |
| ENST00000537656.1:c.-182C>A | ENSP00000444630.1:n.-182C>A | |
| ENST00000538751.5:c.-182C>A | ENSP00000444619.1:n.-182C>A | |
| ENST00000540329.5:c.-182C>A | ENSP00000440018.1:n.-182C>A | |
| ENST00000541756.5:c.347C>A | ENSP00000446360.2:p.Ser116Ter | |
| NM_001567.3:c.545C>A | NP_001558.3:p.Ser182Ter | |
| XM_005273978.3:c.611C>A | XP_005274035.1:p.Ser204Ter | |
| XM_005273979.3:c.611C>A | XP_005274036.1:p.Ser204Ter | |
| XM_011544999.1:c.545C>A | XP_011543301.1:p.Ser182Ter | |
| XM_011545000.1:c.611C>A | XP_011543302.1:p.Ser204Ter | |
| XM_005273979.4:c.611C>A | XP_005274036.1:p.Ser204Ter | |
| XM_011544999.2:c.545C>A | XP_011543301.1:p.Ser182Ter | |
| XM_024448501.1:c.611C>A | XP_024304269.1:p.Ser204Ter | |
| XM_024448502.1:c.611C>A | XP_024304270.1:p.Ser204Ter | |
| XM_024448503.1:c.581C>A | XP_024304271.1:p.Ser194Ter | |
| XM_024448504.1:c.545C>A | XP_024304272.1:p.Ser182Ter | |
| XM_024448505.1:c.611C>A | XP_024304273.1:p.Ser204Ter | |
| NM_001567.4:c.545C>A MANE Select | NP_001558.3:p.Ser182Ter |