Linked Data
ClinVar Variation Id:
192107
dbSNP Id:
rs749236817
ExAC:
10:75871814 C / T
gnomAD v2:
10-75871814-C-T
gnomAD v3:
10-74112056-C-T
gnomAD v4:
10-74112056-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74112056C>T , CM000672.2:g.74112056C>T | GRCh38 |
| NC_000010.10:g.75871814C>T , CM000672.1:g.75871814C>T | GRCh37 |
| NC_000010.9:g.75541820C>T | NCBI36 |
| NG_008868.1:g.118943C>T , LRG_383:g.118943C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.2893C>T MANE Select | ENSP00000211998.5:p.Pro965Ser | |
| ENST00000211998.8:c.2893C>T | ENSP00000211998.4:p.Pro965Ser | |
| ENST00000372755.7:c.2746-2128C>T | ENSP00000361841.3:n.2746-2128C>T | |
| ENST00000436396.1:c.1909C>T | ENSP00000415489.1:p.Pro637Ser | |
| ENST00000623461.3:n.5549-2128C>T | ||
| ENST00000624354.3:c.*2648C>T | ENSP00000485551.1:n.*2648C>T | |
| NM_003373.3:c.2746-2128C>T | NP_003364.1:n.2746-2128C>T | |
| NM_014000.2:c.2893C>T , LRG_383t1:c.2893C>T | NP_054706.1:p.Pro965Ser | |
| XM_005270142.1:c.2896C>T | XP_005270199.1:p.Pro966Ser | |
| XM_005270143.1:c.2749-2128C>T | XP_005270200.1:n.2749-2128C>T | |
| NM_003373.4:c.2746-2128C>T | NP_003364.1:n.2746-2128C>T | |
| NM_014000.3:c.2893C>T MANE Select | NP_054706.1:p.Pro965Ser |