Linked Data
ClinVar Variation Id:
2284408
ClinVar RCV Id:
RCV004138487
dbSNP Id:
rs149148413
ExAC:
9:95179104 G / T
gnomAD v2:
9-95179104-G-T
gnomAD v3:
9-92416822-G-T
gnomAD v4:
9-92416822-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92416822G>T , CM000671.2:g.92416822G>T | GRCh38 |
| NC_000009.11:g.95179104G>T , CM000671.1:g.95179104G>T | GRCh37 |
| NC_000009.10:g.94218925G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375550.5:c.737C>A (OMD) MANE Select | ENSP00000364700.4:p.Ser246Tyr | |
| ENST00000375587.8:c.564+36963G>T (CENPP) MANE Select | ENSP00000364737.3:n.564+36963G>T | |
| ENST00000375550.4:c.737C>A (OMD) | ENSP00000364700.4:p.Ser246Tyr | |
| ENST00000375587.7:c.564+36963G>T (CENPP) | ENSP00000364737.3:n.564+36963G>T | |
| NM_001012267.2:c.564+36963G>T (CENPP) | NP_001012267.1:n.564+36963G>T | |
| NM_001286969.1:c.228+36963G>T (CENPP) | NP_001273898.1:n.228+36963G>T | |
| NM_005014.2:c.737C>A (OMD) | NP_005005.1:p.Ser246Tyr | |
| XM_011518686.1:c.565-2197G>T (CENPP) | XP_011516988.1:n.565-2197G>T | |
| XM_011518687.1:c.565-18805G>T (CENPP) | XP_011516989.1:n.565-18805G>T | |
| XM_011518688.1:c.564+36963G>T (CENPP) | XP_011516990.1:n.564+36963G>T | |
| XM_011518689.1:c.564+36963G>T (CENPP) | XP_011516991.1:n.564+36963G>T | |
| XM_024447543.1:c.288+36963G>T (CENPP) | XP_024303311.1:n.288+36963G>T | |
| NM_001012267.3:c.564+36963G>T (CENPP) MANE Select | NP_001012267.1:n.564+36963G>T | |
| NM_005014.3:c.737C>A (OMD) MANE Select | NP_005005.1:p.Ser246Tyr |