Linked Data
ClinVar Variation Id:
2558778
ClinVar RCV Id:
RCV004325601
dbSNP Id:
rs776124805
ExAC:
9:95179239 G / A
gnomAD v2:
9-95179239-G-A
gnomAD v3:
9-92416957-G-A
gnomAD v4:
9-92416957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92416957G>A , CM000671.2:g.92416957G>A | GRCh38 |
| NC_000009.11:g.95179239G>A , CM000671.1:g.95179239G>A | GRCh37 |
| NC_000009.10:g.94219060G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375550.5:c.602C>T (OMD) MANE Select | ENSP00000364700.4:p.Ser201Phe | |
| ENST00000375587.8:c.564+37098G>A (CENPP) MANE Select | ENSP00000364737.3:n.564+37098G>A | |
| ENST00000375550.4:c.602C>T (OMD) | ENSP00000364700.4:p.Ser201Phe | |
| ENST00000375587.7:c.564+37098G>A (CENPP) | ENSP00000364737.3:n.564+37098G>A | |
| NM_001012267.2:c.564+37098G>A (CENPP) | NP_001012267.1:n.564+37098G>A | |
| NM_001286969.1:c.228+37098G>A (CENPP) | NP_001273898.1:n.228+37098G>A | |
| NM_005014.2:c.602C>T (OMD) | NP_005005.1:p.Ser201Phe | |
| XM_011518686.1:c.565-2062G>A (CENPP) | XP_011516988.1:n.565-2062G>A | |
| XM_011518687.1:c.565-18670G>A (CENPP) | XP_011516989.1:n.565-18670G>A | |
| XM_011518688.1:c.564+37098G>A (CENPP) | XP_011516990.1:n.564+37098G>A | |
| XM_011518689.1:c.564+37098G>A (CENPP) | XP_011516991.1:n.564+37098G>A | |
| XM_024447543.1:c.288+37098G>A (CENPP) | XP_024303311.1:n.288+37098G>A | |
| NM_001012267.3:c.564+37098G>A (CENPP) MANE Select | NP_001012267.1:n.564+37098G>A | |
| NM_005014.3:c.602C>T (OMD) MANE Select | NP_005005.1:p.Ser201Phe |