Linked Data
dbSNP Id:
rs769877084
ExAC:
12:6442363 C / T
gnomAD v2:
12-6442363-C-T
gnomAD v4:
12-6333197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333197C>T , CM000674.2:g.6333197C>T | GRCh38 |
| NC_000012.11:g.6442363C>T , CM000674.1:g.6442363C>T | GRCh37 |
| NC_000012.10:g.6312624C>T | NCBI36 |
| NG_007506.1:g.13899G>A , LRG_193:g.13899G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.507-50G>A | ||
| ENST00000437813.8:c.473-50G>A | ENSP00000513672.1:n.473-50G>A | |
| ENST00000440083.7:c.642G>A | ENSP00000413224.3:p.Gly214= | |
| ENST00000535958.2:c.*300-50G>A | ENSP00000513673.1:n.*300-50G>A | |
| ENST00000698339.1:c.473-50G>A | ENSP00000513670.1:n.473-50G>A | |
| ENST00000698340.1:c.473-50G>A | ENSP00000513671.1:n.473-50G>A | |
| ENST00000162749.7:c.473-50G>A MANE Select | ENSP00000162749.2:n.473-50G>A | |
| ENST00000162749.6:c.473-50G>A | ENSP00000162749.2:n.473-50G>A | |
| ENST00000366159.8:c.473-50G>A | ENSP00000380389.3:n.473-50G>A | |
| ENST00000437813.7:n.434-50G>A | ||
| ENST00000440083.6:c.642G>A | ENSP00000413224.2:p.Gly214= | |
| ENST00000534885.5:c.319-50G>A | ENSP00000441803.1:n.319-50G>A | |
| ENST00000537842.5:n.77-50G>A | ||
| ENST00000539372.5:c.473-50G>A | ENSP00000442059.1:n.473-50G>A | |
| ENST00000540022.5:c.344-50G>A | ENSP00000438343.1:n.344-50G>A | |
| ENST00000543048.5:c.*84-50G>A | ENSP00000439981.1:n.*84-50G>A | |
| ENST00000543995.5:c.*60-50G>A | ENSP00000442405.1:n.*60-50G>A | |
| NM_001065.3:c.473-50G>A , LRG_193t1:c.473-50G>A | NP_001056.1:n.473-50G>A | |
| NM_001346091.1:c.149-50G>A | NP_001333020.1:n.149-50G>A | |
| NM_001346092.1:c.-105-50G>A | NP_001333021.1:n.-105-50G>A | |
| NR_144351.1:n.776-50G>A | ||
| NM_001065.4:c.473-50G>A MANE Select | NP_001056.1:n.473-50G>A | |
| NM_001346091.2:c.149-50G>A | NP_001333020.1:n.149-50G>A | |
| NM_001346092.2:c.-105-50G>A | NP_001333021.1:n.-105-50G>A | |
| NR_144351.2:n.735-50G>A |