Linked Data
dbSNP Id:
rs780908381
ExAC:
2:219677643 A / G
gnomAD v2:
2-219677643-A-G
gnomAD v4:
2-218812920-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812920A>G , CM000664.2:g.218812920A>G | GRCh38 |
| NC_000002.11:g.219677643A>G , CM000664.1:g.219677643A>G | GRCh37 |
| NC_000002.10:g.219385887A>G | NCBI36 |
| NG_007959.1:g.36172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.845-4A>G MANE Select | ENSP00000258415.4:n.845-4A>G | |
| ENST00000258415.8:c.845-4A>G | ENSP00000258415.4:n.845-4A>G | |
| ENST00000411688.1:c.563-4A>G | ENSP00000392671.1:n.563-4A>G | |
| ENST00000445971.1:c.*306-4A>G | ENSP00000404945.1:n.*306-4A>G | |
| ENST00000466602.1:n.963A>G | ||
| ENST00000494263.5:n.1279-4A>G | ||
| NM_000784.3:c.845-4A>G | NP_000775.1:n.845-4A>G | |
| XM_017003488.2:c.425-4A>G | XP_016858977.1:n.425-4A>G | |
| NM_000784.4:c.845-4A>G MANE Select | NP_000775.1:n.845-4A>G |