Linked Data
dbSNP Id:
rs142879390
gnomAD v2:
12-52914150-C-T
gnomAD v3:
12-52520366-C-T
gnomAD v4:
12-52520366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520366C>T , CM000674.2:g.52520366C>T | GRCh38 |
| NC_000012.11:g.52914150C>T , CM000674.1:g.52914150C>T | GRCh37 |
| NC_000012.10:g.51200417C>T | NCBI36 |
| NG_008297.1:g.5094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.-70G>A MANE Select | ENSP00000252242.4:n.-70G>A | |
| ENST00000252242.8:c.-70G>A | ENSP00000252242.4:n.-70G>A | |
| ENST00000546577.1:c.-13+31G>A | ENSP00000449651.1:n.-13+31G>A | |
| ENST00000549420.1:c.-70G>A | ENSP00000447209.1:n.-70G>A | |
| ENST00000551275.1:c.-70G>A | ENSP00000448041.1:n.-70G>A | |
| ENST00000552629.5:n.29G>A | ||
| NM_000424.3:c.-70G>A | NP_000415.2:n.-70G>A | |
| NM_000424.4:c.-70G>A MANE Select | NP_000415.2:n.-70G>A |