Linked Data
dbSNP Id:
rs774816779
ExAC:
12:88582588 C / T
gnomAD v2:
12-88582588-C-T
gnomAD v3:
12-88188811-C-T
gnomAD v4:
12-88188811-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88188811C>T , CM000674.2:g.88188811C>T | GRCh38 |
| NC_000012.11:g.88582588C>T , CM000674.1:g.88582588C>T | GRCh37 |
| NC_000012.10:g.87106719C>T | NCBI36 |
| NG_021187.1:g.51516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266712.11:c.1433-32C>T MANE Select | ENSP00000266712.6:n.1433-32C>T | |
| ENST00000266712.10:c.1433-32C>T | ENSP00000266712.6:n.1433-32C>T | |
| ENST00000547034.5:c.*336-32C>T | ENSP00000448733.1:n.*336-32C>T | |
| NM_181783.3:c.1433-32C>T | NP_861448.2:n.1433-32C>T | |
| XM_005268683.3:c.287-32C>T | XP_005268740.1:n.287-32C>T | |
| XM_011537980.1:c.1214-32C>T | XP_011536282.1:n.1214-32C>T | |
| XM_011537981.1:c.200-32C>T | XP_011536283.1:n.200-32C>T | |
| NM_001366574.1:c.1253-32C>T | NP_001353503.1:n.1253-32C>T | |
| NM_001366579.1:c.1214-32C>T | NP_001353508.1:n.1214-32C>T | |
| NM_001366580.1:c.1166-32C>T | NP_001353509.1:n.1166-32C>T | |
| NM_001366583.1:c.740-32C>T | NP_001353512.1:n.740-32C>T | |
| NR_159381.1:n.1766-32C>T | ||
| NM_181783.4:c.1433-32C>T MANE Select | NP_861448.2:n.1433-32C>T |