Linked Data
dbSNP Id:
rs891226575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887231A>C , CM000664.2:g.43887231A>C | GRCh38 |
| NC_000002.11:g.44114370A>C , CM000664.1:g.44114370A>C | GRCh37 |
| NC_000002.10:g.43967874A>C | NCBI36 |
| NG_008247.1:g.113775T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2321T>G | ||
| ENST00000684454.1:n.9418T>G | ||
| ENST00000260665.12:c.*1369T>G MANE Select | ENSP00000260665.7:n.*1369T>G | |
| ENST00000260665.11:c.*1369T>G | ENSP00000260665.7:n.*1369T>G | |
| NM_133259.3:c.*1369T>G | NP_573566.2:n.*1369T>G | |
| XR_002958896.1:n.5736T>G | ||
| NM_133259.4:c.*1369T>G MANE Select | NP_573566.2:n.*1369T>G |