Linked Data
ClinVar Variation Id:
843
ClinVar RCV Id:
RCV000000886
dbSNP Id:
rs267607199
gnomAD v2:
7-66098412-C-T
gnomAD v3:
7-66633425-C-T
gnomAD v4:
7-66633425-C-T
PubMed:
PMID:17455289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66633425C>T , CM000669.2:g.66633425C>T | GRCh38 |
| NC_000007.13:g.66098412C>T , CM000669.1:g.66098412C>T | GRCh37 |
| NC_000007.12:g.65735847C>T | NCBI36 |
| NG_028110.1:g.9545C>T | |
| NG_028110.2:g.9545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.295C>T | ENSP00000275532.4:p.Arg99Ter | |
| ENST00000449064.6:c.273C>T | ||
| ENST00000503687.2:c.144+4217C>T | ENSP00000421074.1:n.144+4217C>T | |
| ENST00000638524.1:c.139+4217C>T | ||
| ENST00000638540.1:c.118+4217C>T | ||
| ENST00000639828.2:c.295C>T MANE Select | ENSP00000492240.1:p.Arg99Ter | |
| ENST00000639879.1:c.295C>T | ENSP00000492161.1:p.Arg99Ter | |
| ENST00000640234.1:c.165C>T | ||
| ENST00000640385.1:c.295C>T | ENSP00000491193.1:p.Arg99Ter | |
| ENST00000640851.1:c.295C>T | ENSP00000492577.1:p.Arg99Ter | |
| ENST00000275532.7:c.295C>T | ENSP00000275532.3:p.Arg99Ter | |
| ENST00000443322.1:c.295C>T | ENSP00000411624.1:p.Arg99Ter | |
| ENST00000449064.5:c.144+4217C>T | ENSP00000388463.1:n.144+4217C>T | |
| ENST00000503687.1:c.144+4217C>T | ENSP00000421074.1:n.144+4217C>T | |
| NM_001167961.2:c.295C>T | NP_001161433.1:p.Arg99Ter | |
| NM_153033.4:c.295C>T | NP_694578.1:p.Arg99Ter | |
| NM_153033.5:c.295C>T MANE Select | NP_694578.1:p.Arg99Ter |