Linked Data
dbSNP Id:
rs750443473
ExAC:
11:67353528 G / C
gnomAD v2:
11-67353528-G-C
gnomAD v4:
11-67586057-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586057G>C , CM000673.2:g.67586057G>C | GRCh38 |
| NC_000011.9:g.67353528G>C , CM000673.1:g.67353528G>C | GRCh37 |
| NC_000011.8:g.67110104G>C | NCBI36 |
| NG_012075.1:g.7463G>C , LRG_723:g.7463G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-332G>C | ENSP00000381604.1:n.337-332G>C | |
| ENST00000398606.10:c.337-47G>C MANE Select | ENSP00000381607.3:n.337-47G>C | |
| ENST00000646888.1:c.*53-47G>C | ENSP00000494477.1:n.*53-47G>C | |
| ENST00000398603.5:c.337-332G>C | ENSP00000381604.1:n.337-332G>C | |
| ENST00000398606.7:c.337-47G>C | ENSP00000381607.3:n.337-47G>C | |
| ENST00000467591.1:n.448-47G>C | ||
| ENST00000494593.1:n.1132-47G>C | ||
| ENST00000498765.5:c.400-47G>C | ||
| NM_000852.3:c.337-47G>C , LRG_723t1:c.337-47G>C | NP_000843.1:n.337-47G>C | |
| NM_000852.4:c.337-47G>C MANE Select | NP_000843.1:n.337-47G>C |