Linked Data
dbSNP Id:
rs762982963
ExAC:
11:67352732 T / C
gnomAD v2:
11-67352732-T-C
gnomAD v3:
11-67585261-T-C
gnomAD v4:
11-67585261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585261T>C , CM000673.2:g.67585261T>C | GRCh38 |
| NC_000011.9:g.67352732T>C , CM000673.1:g.67352732T>C | GRCh37 |
| NC_000011.8:g.67109308T>C | NCBI36 |
| NG_012075.1:g.6667T>C , LRG_723:g.6667T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.336+20T>C | ENSP00000381604.1:n.336+20T>C | |
| ENST00000398606.10:c.336+20T>C MANE Select | ENSP00000381607.3:n.336+20T>C | |
| ENST00000646888.1:c.*52+20T>C | ENSP00000494477.1:n.*52+20T>C | |
| ENST00000398603.5:c.336+20T>C | ENSP00000381604.1:n.336+20T>C | |
| ENST00000398606.7:c.336+20T>C | ENSP00000381607.3:n.336+20T>C | |
| ENST00000467591.1:n.447+20T>C | ||
| ENST00000494593.1:n.1131+20T>C | ||
| ENST00000498765.5:c.399+20T>C | ||
| NM_000852.3:c.336+20T>C , LRG_723t1:c.336+20T>C | NP_000843.1:n.336+20T>C | |
| NM_000852.4:c.336+20T>C MANE Select | NP_000843.1:n.336+20T>C |