Linked Data
dbSNP Id:
rs1242801017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119533A>G , CM000664.2:g.176119533A>G | GRCh38 |
| NC_000002.11:g.176984261A>G , CM000664.1:g.176984261A>G | GRCh37 |
| NC_000002.10:g.176692507A>G | NCBI36 |
| NG_008133.2:g.12770A>G , LRG_246:g.12770A>G | |
| NG_009225.1:g.1849A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*302A>G MANE Select | ENSP00000249501.4:n.*302A>G | |
| ENST00000249501.4:c.*302A>G | ENSP00000249501.4:n.*302A>G | |
| NM_002148.3:c.*302A>G , LRG_246t1:c.*302A>G | NP_002139.2:n.*302A>G | |
| NM_002148.4:c.*302A>G MANE Select | NP_002139.2:n.*302A>G |