Linked Data
dbSNP Id:
rs370314513
ExAC:
11:67352565 C / G
gnomAD v2:
11-67352565-C-G
gnomAD v4:
11-67585094-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585094C>G , CM000673.2:g.67585094C>G | GRCh38 |
| NC_000011.9:g.67352565C>G , CM000673.1:g.67352565C>G | GRCh37 |
| NC_000011.8:g.67109141C>G | NCBI36 |
| NG_012075.1:g.6500C>G , LRG_723:g.6500C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.233-44C>G | ENSP00000381604.1:n.233-44C>G | |
| ENST00000398606.10:c.233-44C>G MANE Select | ENSP00000381607.3:n.233-44C>G | |
| ENST00000646888.1:c.126-44C>G | ENSP00000494477.1:n.126-44C>G | |
| ENST00000398603.5:c.233-44C>G | ENSP00000381604.1:n.233-44C>G | |
| ENST00000398606.7:c.233-44C>G | ENSP00000381607.3:n.233-44C>G | |
| ENST00000467591.1:n.300C>G | ||
| ENST00000494593.1:n.984C>G | ||
| ENST00000498765.5:c.252C>G | ||
| NM_000852.3:c.233-44C>G , LRG_723t1:c.233-44C>G | NP_000843.1:n.233-44C>G | |
| NM_000852.4:c.233-44C>G MANE Select | NP_000843.1:n.233-44C>G |