Linked Data
ClinVar Variation Id:
486528
dbSNP Id:
rs368020224
ExAC:
10:104377121 C / T
gnomAD v2:
10-104377121-C-T
gnomAD v3:
10-102617364-C-T
gnomAD v4:
10-102617364-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102617364C>T , CM000672.2:g.102617364C>T | GRCh38 |
| NC_000010.10:g.104377121C>T , CM000672.1:g.104377121C>T | GRCh37 |
| NC_000010.9:g.104367111C>T | NCBI36 |
| NG_021338.1:g.118403C>T , LRG_521:g.118403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.1232C>T MANE Select | ENSP00000358918.4:p.Thr411Met | |
| ENST00000369899.6:c.1232C>T | ENSP00000358915.2:p.Thr411Met | |
| ENST00000369902.7:c.1232C>T | ENSP00000358918.3:p.Thr411Met | |
| ENST00000423559.2:c.1232C>T | ENSP00000411597.2:p.Thr411Met | |
| NM_001178133.1:c.1232C>T | NP_001171604.1:p.Thr411Met | |
| NM_016169.3:c.1232C>T , LRG_521t1:c.1232C>T | NP_057253.2:p.Thr411Met | |
| XM_011539858.1:c.1235C>T | XP_011538160.1:p.Thr412Met | |
| XM_011539859.1:c.1235C>T | XP_011538161.1:p.Thr412Met | |
| XM_011539860.1:c.1232C>T | XP_011538162.1:p.Thr411Met | |
| XM_011539861.1:c.1235C>T | XP_011538163.1:p.Thr412Met | |
| XM_011539862.1:c.1157C>T | XP_011538164.1:p.Thr386Met | |
| XM_011539863.1:c.1061C>T | XP_011538165.1:p.Thr354Met | |
| XM_011539864.1:c.1235C>T | XP_011538166.1:p.Thr412Met | |
| XM_011539858.3:c.1235C>T | XP_011538160.1:p.Thr412Met | |
| XM_011539860.3:c.1232C>T | XP_011538162.1:p.Thr411Met | |
| XM_011539861.3:c.1235C>T | XP_011538163.1:p.Thr412Met | |
| XM_011539863.3:c.1061C>T | XP_011538165.1:p.Thr354Met | |
| XM_011539864.3:c.1235C>T | XP_011538166.1:p.Thr412Met | |
| XM_017016323.1:c.1157C>T | XP_016871812.1:p.Thr386Met | |
| NM_001178133.2:c.1232C>T | NP_001171604.1:p.Thr411Met | |
| NM_016169.4:c.1232C>T MANE Select | NP_057253.2:p.Thr411Met |