Linked Data
dbSNP Id:
rs769970856
gnomAD v2:
11-67353514-C-T
gnomAD v3:
11-67586043-C-T
gnomAD v4:
11-67586043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586043C>T , CM000673.2:g.67586043C>T | GRCh38 |
| NC_000011.9:g.67353514C>T , CM000673.1:g.67353514C>T | GRCh37 |
| NC_000011.8:g.67110090C>T | NCBI36 |
| NG_012075.1:g.7449C>T , LRG_723:g.7449C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-346C>T | ENSP00000381604.1:n.337-346C>T | |
| ENST00000398606.10:c.337-61C>T MANE Select | ENSP00000381607.3:n.337-61C>T | |
| ENST00000646888.1:c.*53-61C>T | ENSP00000494477.1:n.*53-61C>T | |
| ENST00000398603.5:c.337-346C>T | ENSP00000381604.1:n.337-346C>T | |
| ENST00000398606.7:c.337-61C>T | ENSP00000381607.3:n.337-61C>T | |
| ENST00000467591.1:n.448-61C>T | ||
| ENST00000494593.1:n.1132-61C>T | ||
| ENST00000498765.5:c.400-61C>T | ||
| NM_000852.3:c.337-61C>T , LRG_723t1:c.337-61C>T | NP_000843.1:n.337-61C>T | |
| NM_000852.4:c.337-61C>T MANE Select | NP_000843.1:n.337-61C>T |