Linked Data
dbSNP Id:
rs773923353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160037559A>G , CM000663.2:g.160037559A>G | GRCh38 |
| NC_000001.10:g.160007349A>G , CM000663.1:g.160007349A>G | GRCh37 |
| NC_000001.9:g.158273973A>G | NCBI36 |
| NG_016411.1:g.37613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+4275T>C | ||
| ENST00000637644.1:c.487+4487T>C | ENSP00000490282.1:n.487+4487T>C | |
| ENST00000639408.1:c.587+2943T>C | ENSP00000491635.1:n.587+2943T>C | |
| ENST00000640914.1:c.224+2943T>C | ||
| ENST00000644903.1:c.*3834T>C MANE Select | ENSP00000495557.1:n.*3834T>C | |
| ENST00000368089.3:c.*3834T>C | ENSP00000357068.3:n.*3834T>C | |
| NM_002241.4:c.*3834T>C | NP_002232.2:n.*3834T>C | |
| NM_002241.5:c.*3834T>C MANE Select | NP_002232.2:n.*3834T>C |