Linked Data
dbSNP Id:
rs764805246
ExAC:
8:128750634 C / T
gnomAD v2:
8-128750634-C-T
gnomAD v4:
8-127738388-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738388C>T , CM000670.2:g.127738388C>T | GRCh38 |
| NC_000008.10:g.128750634C>T , CM000670.1:g.128750634C>T | GRCh37 |
| NC_000008.9:g.128819816C>T | NCBI36 |
| NG_007161.1:g.7319C>T | |
| NG_007161.2:g.7955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707113.1:c.126C>T | ENSP00000516742.1:p.Pro42= | |
| ENST00000707114.1:c.126C>T | ENSP00000516743.1:p.Pro42= | |
| ENST00000707115.1:c.126C>T | ENSP00000516744.1:p.Pro42= | |
| ENST00000707116.1:c.126C>T | ENSP00000516745.1:p.Pro42= | |
| ENST00000517291.2:c.168C>T | ENSP00000429441.2:p.Pro56= | |
| ENST00000524013.2:c.168C>T | ENSP00000430235.2:p.Pro56= | |
| ENST00000621592.8:c.171C>T MANE Select | ENSP00000478887.2:p.Pro57= | |
| ENST00000651626.1:c.-175C>T | ENSP00000499182.1:n.-175C>T | |
| ENST00000652288.1:c.126C>T | ENSP00000499105.1:p.Pro42= | |
| ENST00000259523.10:c.126C>T | ENSP00000259523.6:p.Pro42= | |
| ENST00000377970.6:c.126C>T | ENSP00000367207.3:p.Pro42= | |
| ENST00000517291.1:c.168C>T | ENSP00000429441.1:p.Pro56= | |
| ENST00000520751.1:c.92C>T | ENSP00000430226.1:p.Pro31Leu | |
| ENST00000524013.1:c.168C>T | ENSP00000430235.1:p.Pro56= | |
| ENST00000613283.1:c.171C>T | ENSP00000479618.1:p.Pro57= | |
| ENST00000621592.5:c.171C>T | ENSP00000478887.1:p.Pro57= | |
| NM_002467.4:c.171C>T | NP_002458.2:p.Pro57= | |
| NM_001354870.1:c.168C>T | NP_001341799.1:p.Pro56= | |
| NM_002467.5:c.171C>T | NP_002458.2:p.Pro57= | |
| NM_002467.6:c.171C>T MANE Select | NP_002458.2:p.Pro57= |