Linked Data
dbSNP Id:
rs529281234
gnomAD v2:
12-58158036-C-G
gnomAD v3:
12-57764253-C-G
gnomAD v4:
12-57764253-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764253C>G , CM000674.2:g.57764253C>G | GRCh38 |
| NC_000012.11:g.58158036C>G , CM000674.1:g.58158036C>G | GRCh37 |
| NC_000012.10:g.56444303C>G | NCBI36 |
| NG_007076.1:g.7941G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1218-77G>C | ENSP00000518840.1:n.1218-77G>C | |
| ENST00000713545.1:c.*142-77G>C | ENSP00000518841.1:n.*142-77G>C | |
| ENST00000228606.9:c.1137-77G>C MANE Select | ENSP00000228606.4:n.1137-77G>C | |
| ENST00000228606.8:c.1137-77G>C | ENSP00000228606.4:n.1137-77G>C | |
| ENST00000546567.5:c.432-77G>C | ENSP00000449472.1:n.432-77G>C | |
| ENST00000547344.5:n.1276-77G>C | ||
| NM_000785.3:c.1137-77G>C | NP_000776.1:n.1137-77G>C | |
| NM_000785.4:c.1137-77G>C MANE Select | NP_000776.1:n.1137-77G>C |