Linked Data
ClinVar Variation Id:
217330
ClinVar RCV Id:
RCV000203398
dbSNP Id:
rs864309683
PubMed:
PMID:26694549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231710T>C , CM000684.2:g.25231710T>C | GRCh38 |
| NC_000022.10:g.25627677T>C , CM000684.1:g.25627677T>C | GRCh37 |
| NC_000022.9:g.23957677T>C | NCBI36 |
| NG_009827.1:g.17066T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398215.3:c.556T>C MANE Select | ENSP00000381273.2:p.Ser186Pro | |
| ENST00000651629.1:c.556T>C | ENSP00000498905.1:p.Ser186Pro | |
| ENST00000398215.2:c.556T>C | ENSP00000381273.2:p.Ser186Pro | |
| NM_000496.2:c.556T>C | NP_000487.1:p.Ser186Pro | |
| XM_006724141.2:c.556T>C | XP_006724204.1:p.Ser186Pro | |
| XM_011529900.1:c.556T>C | XP_011528202.1:p.Ser186Pro | |
| XM_011529901.1:c.556T>C | XP_011528203.1:p.Ser186Pro | |
| XM_006724141.3:c.556T>C | XP_006724204.1:p.Ser186Pro | |
| XM_011529900.2:c.556T>C | XP_011528202.1:p.Ser186Pro | |
| NM_000496.3:c.556T>C MANE Select | NP_000487.1:p.Ser186Pro |