Linked Data
ClinVar Variation Id:
367476
dbSNP Id:
rs530710210
ExAC:
9:93976699 T / A
gnomAD v2:
9-93976699-T-A
gnomAD v3:
9-91214417-T-A
gnomAD v4:
9-91214417-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91214417T>A , CM000671.2:g.91214417T>A | GRCh38 |
| NC_000009.11:g.93976699T>A , CM000671.1:g.93976699T>A | GRCh37 |
| NC_000009.10:g.93016520T>A | NCBI36 |
| NG_008017.1:g.152508A>T , LRG_449:g.152508A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.951A>T MANE Select | ENSP00000364883.5:p.Pro317= | |
| ENST00000303617.5:c.864A>T | ENSP00000307334.5:p.Pro288= | |
| ENST00000375731.8:c.951A>T | ENSP00000364883.4:p.Pro317= | |
| ENST00000473695.1:n.175A>T | ||
| NM_001306190.1:c.864A>T | NP_001293119.1:p.Pro288= | |
| NM_001698.2:c.951A>T , LRG_449t1:c.951A>T | NP_001689.1:p.Pro317= | |
| XM_005252066.2:c.981A>T | XP_005252123.1:p.Pro327= | |
| XM_005252067.3:c.933A>T | XP_005252124.1:p.Pro311= | |
| XM_005252073.2:c.489A>T | XP_005252130.1:p.Pro163= | |
| XM_006717150.2:c.894A>T | XP_006717213.1:p.Pro298= | |
| XM_011518801.1:c.627A>T | XP_011517103.1:p.Pro209= | |
| XM_011518802.1:c.624A>T | XP_011517104.1:p.Pro208= | |
| NM_001351431.1:c.624A>T | NP_001338360.1:p.Pro208= | |
| NM_001351432.1:c.624A>T | NP_001338361.1:p.Pro208= | |
| NM_001351433.1:c.576A>T | NP_001338362.1:p.Pro192= | |
| XM_005252066.3:c.981A>T | XP_005252123.1:p.Pro327= | |
| XM_005252067.4:c.933A>T | XP_005252124.1:p.Pro311= | |
| XM_006717150.3:c.894A>T | XP_006717213.1:p.Pro298= | |
| XM_017014849.1:c.903A>T | XP_016870338.1:p.Pro301= | |
| XR_001746328.2:n.1176A>T | ||
| XR_001746329.2:n.1128A>T | ||
| NM_001698.3:c.951A>T MANE Select | NP_001689.1:p.Pro317= | |
| NM_001306190.2:c.864A>T | NP_001293119.1:p.Pro288= | |
| NM_001351431.2:c.624A>T | NP_001338360.1:p.Pro208= | |
| NM_001351432.2:c.624A>T | NP_001338361.1:p.Pro208= | |
| NM_001351433.2:c.576A>T | NP_001338362.1:p.Pro192= |