Linked Data
ClinVar Variation Id:
1916075
ClinVar RCV Id:
RCV002613140
dbSNP Id:
rs760791212
gnomAD v3:
11-6617027-G-A
gnomAD v4:
11-6617027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617027G>A , CM000673.2:g.6617027G>A | GRCh38 |
| NC_000011.9:g.6638258G>A , CM000673.1:g.6638258G>A | GRCh37 |
| NC_000011.8:g.6594834G>A | NCBI36 |
| NG_008653.1:g.7435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.521C>T | ENSP00000507321.1:p.Thr174Ile | |
| ENST00000299427.12:c.635C>T MANE Select | ENSP00000299427.6:p.Thr212Ile | |
| ENST00000436873.7:c.312+274C>T | ||
| ENST00000524788.2:n.1794C>T | ||
| ENST00000524903.2:n.1910C>T | ||
| ENST00000528807.2:n.291C>T | ||
| ENST00000530040.2:n.479+332C>T | ||
| ENST00000533371.6:c.-95C>T | ENSP00000437066.1:n.-95C>T | |
| ENST00000534644.6:n.583C>T | ||
| ENST00000642892.1:c.-95C>T | ENSP00000494165.1:n.-95C>T | |
| ENST00000643439.1:c.*375C>T | ENSP00000495849.1:n.*375C>T | |
| ENST00000643479.1:n.664C>T | ||
| ENST00000643516.1:c.395+274C>T | ||
| ENST00000644151.1:n.2074C>T | ||
| ENST00000644218.1:c.635C>T | ENSP00000493574.1:p.Thr212Ile | |
| ENST00000644683.1:c.*88C>T | ENSP00000494085.1:n.*88C>T | |
| ENST00000644810.1:c.356C>T | ENSP00000495895.1:p.Thr119Ile | |
| ENST00000644831.1:n.811C>T | ||
| ENST00000644933.1:c.-95C>T | ENSP00000496133.1:n.-95C>T | |
| ENST00000645020.1:n.1810C>T | ||
| ENST00000645285.1:c.-95C>T | ENSP00000495058.1:n.-95C>T | |
| ENST00000645331.1:n.1001C>T | ||
| ENST00000645620.1:c.-95C>T | ENSP00000493657.1:n.-95C>T | |
| ENST00000646777.1:n.811C>T | ||
| ENST00000647016.1:n.1115C>T | ||
| ENST00000647152.1:c.-95C>T | ENSP00000495893.1:n.-95C>T | |
| ENST00000647209.1:c.*504C>T | ENSP00000495558.1:n.*504C>T | |
| ENST00000647346.1:n.1655C>T | ||
| ENST00000299427.10:c.635C>T | ENSP00000299427.6:p.Thr212Ile | |
| ENST00000428886.6:n.804C>T | ||
| ENST00000436873.6:c.450+332C>T | ENSP00000398136.2:n.450+332C>T | |
| ENST00000524788.1:n.335C>T | ||
| ENST00000528571.5:c.*375C>T | ENSP00000434647.1:n.*375C>T | |
| ENST00000528807.1:n.185C>T | ||
| ENST00000533371.5:c.-95C>T | ENSP00000437066.1:n.-95C>T | |
| ENST00000534644.5:n.620C>T | ||
| ENST00000611494.4:c.635C>T | ENSP00000484546.1:p.Thr212Ile | |
| NM_000391.3:c.635C>T | NP_000382.3:p.Thr212Ile | |
| NM_000391.4:c.635C>T MANE Select | NP_000382.3:p.Thr212Ile |