Linked Data
ClinVar Variation Id:
475198
ClinVar RCV Id:
RCV000535265
dbSNP Id:
rs906604048
gnomAD v2:
17-6607246-G-A
gnomAD v3:
17-6703927-G-A
gnomAD v4:
17-6703927-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703927G>A , CM000679.2:g.6703927G>A | GRCh38 |
| NC_000017.10:g.6607246G>A , CM000679.1:g.6607246G>A | GRCh37 |
| NC_000017.9:g.6547970G>A | NCBI36 |
| NG_034220.1:g.14495C>T , LRG_1020:g.14495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.498C>T MANE Select | ENSP00000406220.2:p.Thr166= | |
| ENST00000293800.10:c.447C>T | ENSP00000293800.6:p.Thr149= | |
| ENST00000381074.8:c.369C>T | ENSP00000370464.4:p.Thr123= | |
| ENST00000433363.6:c.498C>T | ENSP00000406220.2:p.Thr166= | |
| ENST00000572094.1:c.*248C>T | ENSP00000461495.1:n.*248C>T | |
| ENST00000572352.5:c.387C>T | ENSP00000461622.1:p.Thr129= | |
| ENST00000573648.5:c.498C>T | ENSP00000459372.1:p.Thr166= | |
| ENST00000574824.5:n.1631C>T | ||
| ENST00000576323.1:n.528C>T | ||
| NM_001143838.2:c.498C>T | NP_001137310.1:p.Thr166= | |
| NM_001284509.1:c.447C>T | NP_001271438.1:p.Thr149= | |
| NM_001284510.1:c.369C>T | NP_001271439.1:p.Thr123= | |
| NM_177550.4:c.498C>T , LRG_1020t1:c.498C>T | NP_808218.1:p.Thr166= | |
| XM_006721504.2:c.387C>T | XP_006721567.1:p.Thr129= | |
| XM_011523795.1:c.498C>T | XP_011522097.1:p.Thr166= | |
| XM_011523795.3:c.498C>T | XP_011522097.1:p.Thr166= | |
| NM_001143838.3:c.498C>T | NP_001137310.1:p.Thr166= | |
| NM_001284509.2:c.447C>T | NP_001271438.1:p.Thr149= | |
| NM_001284510.2:c.369C>T | NP_001271439.1:p.Thr123= | |
| NM_177550.5:c.498C>T MANE Select | NP_808218.1:p.Thr166= |