Linked Data
dbSNP Id:
rs139166893
gnomAD v2:
12-22365759-G-C
gnomAD v3:
12-22212825-G-C
gnomAD v4:
12-22212825-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.22212825G>C , CM000674.2:g.22212825G>C | GRCh38 |
| NC_000012.11:g.22365759G>C , CM000674.1:g.22365759G>C | GRCh37 |
| NC_000012.10:g.22257026G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396037.9:c.585-10787C>G MANE Select | ENSP00000379353.3:n.585-10787C>G | |
| ENST00000261197.7:c.*67-10787C>G | ENSP00000261197.3:n.*67-10787C>G | |
| ENST00000396037.8:c.585-10787C>G | ENSP00000379353.3:n.585-10787C>G | |
| ENST00000508924.2:n.188-10787C>G | ||
| ENST00000540824.5:c.438-10787C>G | ENSP00000441707.1:n.438-10787C>G | |
| ENST00000544732.5:n.151+36181C>G | ||
| ENST00000545494.5:n.306-10787C>G | ||
| ENST00000545524.5:n.249+36181C>G | ||
| NM_001304450.1:c.156-10787C>G | NP_001291379.1:n.156-10787C>G | |
| NM_003034.3:c.585-10787C>G | NP_003025.1:n.585-10787C>G | |
| XR_931322.1:n.1041+36181C>G | ||
| NM_001304450.2:c.156-10787C>G | NP_001291379.1:n.156-10787C>G | |
| NM_003034.4:c.585-10787C>G MANE Select | NP_003025.1:n.585-10787C>G |