Linked Data
dbSNP Id:
rs2269718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159305916G>C , CM000663.2:g.159305916G>C | GRCh38 |
| NC_000001.10:g.159275706G>C , CM000663.1:g.159275706G>C | GRCh37 |
| NC_000001.9:g.157542330G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000693622.1:c.332-72G>C MANE Select | ENSP00000509626.1:n.332-72G>C | |
| ENST00000368114.1:c.233-72G>C | ENSP00000357096.1:n.233-72G>C | |
| ENST00000368115.5:c.332-72G>C | ENSP00000357097.1:n.332-72G>C | |
| NM_002001.3:c.332-72G>C | NP_001992.1:n.332-72G>C | |
| NM_001387280.1:c.332-72G>C MANE Select | NP_001374209.1:n.332-72G>C | |
| NM_001387281.1:c.77-72G>C | NP_001374210.1:n.77-72G>C | |
| NM_001387282.1:c.233-72G>C | NP_001374211.1:n.233-72G>C | |
| NM_002001.4:c.332-72G>C | NP_001992.1:n.332-72G>C |