Linked Data
ClinVar Variation Id:
2610813
dbSNP Id:
rs1014433615
gnomAD v2:
13-40268801-C-T
gnomAD v3:
13-39694664-C-T
gnomAD v4:
13-39694664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39694664C>T , CM000675.2:g.39694664C>T | GRCh38 |
| NC_000013.10:g.40268801C>T , CM000675.1:g.40268801C>T | GRCh37 |
| NC_000013.9:g.39166801C>T | NCBI36 |
| NG_028352.1:g.44038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1105C>T MANE Select | ENSP00000397441.2:p.Pro369Ser | |
| ENST00000356576.8:c.*942C>T | ENSP00000348983.4:n.*942C>T | |
| ENST00000416691.5:c.1105C>T | ENSP00000403733.1:p.Pro369Ser | |
| ENST00000455146.7:c.1105C>T | ENSP00000397441.2:p.Pro369Ser | |
| NM_001145079.1:c.1105C>T | NP_001138551.1:p.Pro369Ser | |
| NM_020751.2:c.1105C>T | NP_065802.1:p.Pro369Ser | |
| NR_026745.1:n.1270C>T | ||
| XM_011535168.1:c.1105C>T | XP_011533470.1:p.Pro369Ser | |
| XM_011535169.1:c.949C>T | XP_011533471.1:p.Pro317Ser | |
| XM_011535170.1:c.949C>T | XP_011533472.1:p.Pro317Ser | |
| NM_020751.3:c.1105C>T MANE Select | NP_065802.1:p.Pro369Ser | |
| NM_001145079.2:c.1105C>T | NP_001138551.1:p.Pro369Ser |