Linked Data
ClinVar Variation Id:
845484
ClinVar RCV Id:
RCV001048555
dbSNP Id:
rs1961073180
gnomAD v4:
16-68819300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819300C>T , CM000678.2:g.68819300C>T | GRCh38 |
| NC_000016.9:g.68853203C>T , CM000678.1:g.68853203C>T | GRCh37 |
| NC_000016.8:g.67410704C>T | NCBI36 |
| NG_008021.1:g.87009C>T , LRG_301:g.87009C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1586C>T MANE Select | ENSP00000261769.4:p.Thr529Ile | |
| ENST00000261769.9:c.1586C>T | ENSP00000261769.4:p.Thr529Ile | |
| ENST00000422392.6:c.1403C>T | ENSP00000414946.2:p.Thr468Ile | |
| ENST00000562836.5:n.1657C>T | ||
| ENST00000566510.5:c.*252C>T | ENSP00000458139.1:n.*252C>T | |
| ENST00000566612.5:c.1566-2701C>T | ENSP00000454782.1:n.1566-2701C>T | |
| ENST00000611625.4:c.1649C>T | ENSP00000481063.1:p.Thr550Ile | |
| ENST00000612417.4:c.1586C>T | ENSP00000478360.1:p.Thr529Ile | |
| ENST00000621016.4:c.1586C>T | ENSP00000480664.1:p.Thr529Ile | |
| NM_004360.3:c.1586C>T , LRG_301t1:c.1586C>T | NP_004351.1:p.Thr529Ile | |
| XM_011523488.1:c.851C>T | XP_011521790.1:p.Thr284Ile | |
| XM_011523489.1:c.851C>T | XP_011521791.1:p.Thr284Ile | |
| NM_001317184.1:c.1403C>T | NP_001304113.1:p.Thr468Ile | |
| NM_001317185.1:c.38C>T | NP_001304114.1:p.Thr13Ile | |
| NM_001317186.1:c.-254-2701C>T | NP_001304115.1:n.-254-2701C>T | |
| NM_004360.4:c.1586C>T | NP_004351.1:p.Thr529Ile | |
| NM_004360.5:c.1586C>T MANE Select | NP_004351.1:p.Thr529Ile | |
| NM_001317184.2:c.1403C>T | NP_001304113.1:p.Thr468Ile | |
| NM_001317185.2:c.38C>T | NP_001304114.1:p.Thr13Ile | |
| NM_001317186.2:c.-254-2701C>T | NP_001304115.1:n.-254-2701C>T |