Linked Data
dbSNP Id:
rs550417983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251963A>C , CM000663.2:g.193251963A>C | GRCh38 |
| NC_000001.10:g.193221093A>C , CM000663.1:g.193221093A>C | GRCh37 |
| NC_000001.9:g.191487716A>C | NCBI36 |
| NG_012691.1:g.135006A>C , LRG_507:g.135006A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1251A>C MANE Select | ENSP00000356405.4:n.*1251A>C | |
| ENST00000635846.1:c.*1251A>C | ENSP00000490035.1:n.*1251A>C | |
| ENST00000643006.1:c.*1757A>C | ENSP00000496633.1:n.*1757A>C | |
| ENST00000367435.3:c.*1251A>C | ENSP00000356405.3:n.*1251A>C | |
| NM_024529.4:c.*1251A>C , LRG_507t1:c.*1251A>C | NP_078805.3:n.*1251A>C | |
| NM_024529.5:c.*1251A>C MANE Select | NP_078805.3:n.*1251A>C |