Linked Data
ClinVar Variation Id:
3193742
ClinVar RCV Id:
RCV004489039
dbSNP Id:
rs768411556
ExAC:
7:44797585 C / T
gnomAD v2:
7-44797585-C-T
gnomAD v3:
7-44757986-C-T
gnomAD v4:
7-44757986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44757986C>T , CM000669.2:g.44757986C>T | GRCh38 |
| NC_000007.13:g.44797585C>T , CM000669.1:g.44797585C>T | GRCh37 |
| NC_000007.12:g.44764110C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309315.9:c.691C>T MANE Select | ENSP00000311778.4:p.Pro231Ser | |
| ENST00000265346.11:c.691C>T | ENSP00000265346.7:p.Pro231Ser | |
| ENST00000309315.8:c.691C>T | ENSP00000311778.4:p.Pro231Ser | |
| ENST00000413916.5:c.595C>T | ENSP00000409648.1:p.Pro199Ser | |
| ENST00000433667.5:c.595C>T | ENSP00000396601.1:p.Pro199Ser | |
| ENST00000441627.5:c.691C>T | ENSP00000414723.1:p.Pro231Ser | |
| ENST00000615423.1:c.691C>T | ENSP00000483853.1:p.Pro231Ser | |
| NM_001300959.1:c.595C>T | NP_001287888.1:p.Pro199Ser | |
| NM_031449.3:c.691C>T | NP_113637.3:p.Pro231Ser | |
| NM_174929.2:c.691C>T | NP_777589.2:p.Pro231Ser | |
| XM_005249866.2:c.691C>T | XP_005249923.1:p.Pro231Ser | |
| XM_005249867.3:c.691C>T | XP_005249924.1:p.Pro231Ser | |
| XM_005249868.3:c.691C>T | XP_005249925.1:p.Pro231Ser | |
| XM_005249869.2:c.691C>T | XP_005249926.1:p.Pro231Ser | |
| XM_005249870.2:c.691C>T | XP_005249927.1:p.Pro231Ser | |
| XM_005249871.2:c.595C>T | XP_005249928.1:p.Pro199Ser | |
| XM_005249872.2:c.691C>T | XP_005249929.1:p.Pro231Ser | |
| XM_005249873.2:c.595C>T | XP_005249930.1:p.Pro199Ser | |
| XM_006715787.2:c.691C>T | XP_006715850.1:p.Pro231Ser | |
| XM_011515565.1:c.691C>T | XP_011513867.1:p.Pro231Ser | |
| XR_926948.1:n.838C>T | ||
| XR_926949.1:n.838C>T | ||
| XR_926950.1:n.838C>T | ||
| XM_005249867.5:c.691C>T | XP_005249924.1:p.Pro231Ser | |
| XM_005249868.4:c.691C>T | XP_005249925.1:p.Pro231Ser | |
| XM_017012674.1:c.691C>T | XP_016868163.1:p.Pro231Ser | |
| NM_031449.4:c.691C>T MANE Select | NP_113637.3:p.Pro231Ser | |
| NM_001300959.2:c.595C>T | NP_001287888.1:p.Pro199Ser |