Linked Data
ClinVar Variation Id:
7289
ClinVar RCV Id:
RCV001040162
dbSNP Id:
rs104894206
gnomAD v4:
11-88309176-G-A
PubMed:
PMID:10581027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88309176G>A , CM000673.2:g.88309176G>A | GRCh38 |
| NC_000011.9:g.88042344G>A , CM000673.1:g.88042344G>A | GRCh37 |
| NC_000011.8:g.87681992G>A | NCBI36 |
| NG_007952.1:g.33598C>T , LRG_50:g.33598C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227266.10:c.628C>T MANE Select | ENSP00000227266.4:p.Arg210Ter | |
| ENST00000527018.6:c.628C>T | ENSP00000432556.2:p.Arg210Ter | |
| ENST00000533897.2:n.676C>T | ||
| ENST00000676612.1:c.*435C>T | ENSP00000504440.1:n.*435C>T | |
| ENST00000677208.1:c.*134C>T | ENSP00000504347.1:n.*134C>T | |
| ENST00000677661.1:c.*305C>T | ENSP00000503323.1:n.*305C>T | |
| ENST00000677802.1:c.*305C>T | ENSP00000504115.1:n.*305C>T | |
| ENST00000678065.1:n.188C>T | ||
| ENST00000678395.1:c.*134C>T | ENSP00000503123.1:n.*134C>T | |
| ENST00000678464.1:c.628C>T | ENSP00000503046.1:p.Arg210Ter | |
| ENST00000678506.1:c.589C>T | ENSP00000503580.1:p.Arg197Ter | |
| ENST00000678520.1:c.*292+3212C>T | ENSP00000503361.1:n.*292+3212C>T | |
| ENST00000678554.1:c.628C>T | ENSP00000504541.1:p.Arg210Ter | |
| ENST00000678915.1:c.628C>T | ENSP00000504805.1:p.Arg210Ter | |
| ENST00000679224.1:c.265C>T | ENSP00000504475.1:p.Arg89Ter | |
| ENST00000227266.9:c.628C>T | ENSP00000227266.4:p.Arg210Ter | |
| ENST00000527018.5:c.498C>T | ||
| NM_001814.4:c.628C>T , LRG_50t1:c.628C>T | NP_001805.3:p.Arg210Ter | |
| NM_001814.5:c.628C>T | NP_001805.3:p.Arg210Ter | |
| NM_001814.6:c.628C>T MANE Select | NP_001805.4:p.Arg210Ter |