Linked Data
ClinVar Variation Id:
7483
dbSNP Id:
rs104894020
COSMIC:
COSM3640640
PubMed:
PMID:16155736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76304099C>T , CM000669.2:g.76304099C>T | GRCh38 |
| NC_000007.13:g.75933416C>T , CM000669.1:g.75933416C>T | GRCh37 |
| NC_000007.12:g.75771352C>T | NCBI36 |
| NG_008995.1:g.6542C>T , LRG_248:g.6542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.544C>T MANE Select | ENSP00000248553.6:p.Pro182Ser | |
| ENST00000674547.1:c.*135C>T | ENSP00000502461.1:n.*135C>T | |
| ENST00000674638.1:c.*65C>T | ENSP00000502651.1:n.*65C>T | |
| ENST00000674650.1:c.*54C>T | ENSP00000501628.1:n.*54C>T | |
| ENST00000674965.1:c.*200C>T | ENSP00000501765.1:n.*200C>T | |
| ENST00000675134.1:c.523C>T | ENSP00000501831.1:p.Pro175Ser | |
| ENST00000675226.1:c.*54C>T | ENSP00000502510.1:n.*54C>T | |
| ENST00000675417.1:n.895C>T | ||
| ENST00000675538.1:c.*54C>T | ENSP00000502495.1:n.*54C>T | |
| ENST00000675906.1:c.*129C>T | ENSP00000502714.1:n.*129C>T | |
| ENST00000676231.1:c.574C>T | ENSP00000502249.1:p.Pro192Ser | |
| ENST00000248553.6:c.544C>T | ENSP00000248553.6:p.Pro182Ser | |
| ENST00000429938.1:c.40C>T | ENSP00000405285.1:p.Pro14Ser | |
| ENST00000447574.1:c.*708C>T | ENSP00000414357.1:n.*708C>T | |
| NM_001540.3:c.544C>T , LRG_248t1:c.544C>T | NP_001531.1:p.Pro182Ser | |
| NM_001540.4:c.544C>T | NP_001531.1:p.Pro182Ser | |
| NM_001540.5:c.544C>T MANE Select | NP_001531.1:p.Pro182Ser |