Linked Data
ClinVar Variation Id:
2216121
ClinVar RCV Id:
RCV004076034
dbSNP Id:
rs528655098
ExAC:
11:72945502 C / T
gnomAD v2:
11-72945502-C-T
gnomAD v3:
11-73234457-C-T
gnomAD v4:
11-73234457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73234457C>T , CM000673.2:g.73234457C>T | GRCh38 |
| NC_000011.9:g.72945502C>T , CM000673.1:g.72945502C>T | GRCh37 |
| NC_000011.8:g.72623150C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393597.7:c.298C>T MANE Select | ENSP00000377222.2:p.Pro100Ser | |
| ENST00000311131.6:c.298C>T | ENSP00000310305.2:p.Pro100Ser | |
| ENST00000393596.2:c.298C>T | ENSP00000377221.2:p.Pro100Ser | |
| ENST00000393597.6:c.298C>T | ENSP00000377222.2:p.Pro100Ser | |
| NM_002564.3:c.298C>T | NP_002555.3:p.Pro100Ser | |
| NM_176071.2:c.298C>T | NP_788085.2:p.Pro100Ser | |
| NM_176072.2:c.298C>T | NP_788086.2:p.Pro100Ser | |
| XM_005274019.3:c.298C>T | XP_005274076.1:p.Pro100Ser | |
| XM_005274020.3:c.298C>T | XP_005274077.1:p.Pro100Ser | |
| XM_005274021.3:c.298C>T | XP_005274078.1:p.Pro100Ser | |
| XM_011545074.1:c.298C>T | XP_011543376.1:p.Pro100Ser | |
| XM_005274019.4:c.298C>T | XP_005274076.1:p.Pro100Ser | |
| XM_005274020.4:c.298C>T | XP_005274077.1:p.Pro100Ser | |
| XM_005274021.4:c.298C>T | XP_005274078.1:p.Pro100Ser | |
| XM_011545074.2:c.298C>T | XP_011543376.1:p.Pro100Ser | |
| XM_017017839.1:c.298C>T | XP_016873328.1:p.Pro100Ser | |
| XR_001747890.1:n.650C>T | ||
| XR_001747891.1:n.650C>T | ||
| XR_001747892.1:n.650C>T | ||
| NM_002564.4:c.298C>T MANE Select | NP_002555.4:p.Pro100Ser | |
| NM_176071.3:c.298C>T | NP_788085.3:p.Pro100Ser | |
| NM_176072.3:c.298C>T | NP_788086.3:p.Pro100Ser |