Linked Data
ClinVar Variation Id:
3142748
ClinVar RCV Id:
RCV004436133
dbSNP Id:
rs770415104
ExAC:
18:13096257 C / T
gnomAD v2:
18-13096257-C-T
gnomAD v4:
18-13096258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13096258C>T , CM000680.2:g.13096258C>T | GRCh38 |
| NC_000018.9:g.13096257C>T , CM000680.1:g.13096257C>T | GRCh37 |
| NC_000018.8:g.13086257C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325971.12:c.5083C>T | ENSP00000317156.9:p.Pro1695Ser | |
| ENST00000430049.6:c.*500C>T | ENSP00000389190.3:n.*500C>T | |
| ENST00000506447.5:c.6508C>T MANE Select | ENSP00000427550.1:p.Pro2170Ser | |
| ENST00000510237.5:c.5308C>T | ENSP00000423147.1:p.Pro1770Ser | |
| ENST00000511820.6:c.5124C>T | ||
| ENST00000513432.5:c.7247C>T | ||
| ENST00000540847.6:n.1113C>T | ||
| ENST00000589993.5:c.2151C>T | ||
| NM_032142.3:c.6508C>T | NP_115518.3:p.Pro2170Ser | |
| XM_005258107.2:c.6508C>T | XP_005258164.1:p.Pro2170Ser | |
| XM_005258108.1:c.6496C>T | XP_005258165.1:p.Pro2166Ser | |
| XM_005258109.2:c.6298C>T | XP_005258166.1:p.Pro2100Ser | |
| XM_005258110.1:c.4462C>T | XP_005258167.1:p.Pro1488Ser | |
| XM_006722326.2:c.6508C>T | XP_006722389.1:p.Pro2170Ser | |
| XM_006722327.2:c.6298C>T | XP_006722390.1:p.Pro2100Ser | |
| XM_006722330.2:c.5491C>T | XP_006722393.1:p.Pro1831Ser | |
| XM_011525672.1:c.6352C>T | XP_011523974.1:p.Pro2118Ser | |
| XM_011525673.1:c.6334C>T | XP_011523975.1:p.Pro2112Ser | |
| XM_011525674.1:c.6508C>T | XP_011523976.1:p.Pro2170Ser | |
| XM_011525675.1:c.6169C>T | XP_011523977.1:p.Pro2057Ser | |
| XM_011525676.1:c.4720C>T | XP_011523978.1:p.Pro1574Ser | |
| XR_430040.2:n.6626C>T | ||
| XM_005258107.3:c.6508C>T | XP_005258164.1:p.Pro2170Ser | |
| XM_005258109.3:c.6298C>T | XP_005258166.1:p.Pro2100Ser | |
| XM_006722326.3:c.6508C>T | XP_006722389.1:p.Pro2170Ser | |
| XM_006722327.3:c.6298C>T | XP_006722390.1:p.Pro2100Ser | |
| XM_006722330.3:c.5491C>T | XP_006722393.1:p.Pro1831Ser | |
| XM_011525673.2:c.6334C>T | XP_011523975.1:p.Pro2112Ser | |
| XM_011525675.3:c.6238C>T | XP_011523977.2:p.Pro2080Ser | |
| XM_017025803.2:c.5761C>T | XP_016881292.1:p.Pro1921Ser | |
| XM_017025804.1:c.5491C>T | XP_016881293.1:p.Pro1831Ser | |
| XM_017025806.1:c.4603C>T | XP_016881295.1:p.Pro1535Ser | |
| XM_017025807.1:c.4462C>T | XP_016881296.1:p.Pro1488Ser | |
| XM_024451196.1:c.4720C>T | XP_024306964.1:p.Pro1574Ser | |
| XM_024451197.1:c.4462C>T | XP_024306965.1:p.Pro1488Ser | |
| XR_001753206.1:n.6643C>T | ||
| XR_001753207.1:n.6794C>T | ||
| XR_002958178.1:n.6643C>T | ||
| NM_032142.4:c.6508C>T MANE Select | NP_115518.3:p.Pro2170Ser |