Linked Data
ClinVar Variation Id:
1367166
ClinVar RCV Id:
RCV001932420
dbSNP Id:
rs551274166
ExAC:
2:88874536 G / A
gnomAD v2:
2-88874536-G-A
gnomAD v3:
2-88575018-G-A
gnomAD v4:
2-88575018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575018G>A , CM000664.2:g.88575018G>A | GRCh38 |
| NC_000002.11:g.88874536G>A , CM000664.1:g.88874536G>A | GRCh37 |
| NC_000002.10:g.88655651G>A | NCBI36 |
| NG_016424.1:g.57559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.2293C>T | ||
| ENST00000682103.1:c.6C>T | ||
| ENST00000682276.1:n.1910C>T | ||
| ENST00000682892.1:c.2012C>T | ENSP00000507214.1:p.Pro671Leu | |
| ENST00000682952.1:n.2104C>T | ||
| ENST00000684455.1:c.1678C>T | ||
| ENST00000684642.1:c.1862C>T | ENSP00000507355.1:p.Pro621Leu | |
| ENST00000684740.1:n.2643C>T | ||
| ENST00000303236.9:c.2465C>T MANE Select | ENSP00000307235.3:p.Pro822Leu | |
| ENST00000652099.1:c.2659C>T | ||
| ENST00000652736.1:n.2341C>T | ||
| ENST00000303236.7:c.2465C>T | ENSP00000307235.3:p.Pro822Leu | |
| ENST00000415570.1:c.2102C>T | ENSP00000412076.1:p.Pro701Leu | |
| ENST00000419748.5:c.2012C>T | ENSP00000408325.1:p.Pro671Leu | |
| ENST00000470706.1:n.108C>T | ||
| NM_001313915.1:c.2012C>T | NP_001300844.1:p.Pro671Leu | |
| NM_004836.5:c.2465C>T | NP_004827.4:p.Pro822Leu | |
| NM_004836.6:c.2465C>T | NP_004827.4:p.Pro822Leu | |
| NR_110236.1:n.1155G>A | ||
| XM_005264649.3:c.1781C>T | XP_005264706.1:p.Pro594Leu | |
| XM_017005376.2:c.1781C>T | XP_016860865.1:p.Pro594Leu | |
| NM_004836.7:c.2465C>T MANE Select | NP_004827.4:p.Pro822Leu | |
| NM_001313915.2:c.2012C>T | NP_001300844.1:p.Pro671Leu |