Linked Data
dbSNP Id:
rs759825894
ExAC:
12:52913516 C / T
gnomAD v2:
12-52913516-C-T
gnomAD v3:
12-52519732-C-T
gnomAD v4:
12-52519732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519732C>T , CM000674.2:g.52519732C>T | GRCh38 |
| NC_000012.11:g.52913516C>T , CM000674.1:g.52913516C>T | GRCh37 |
| NC_000012.10:g.51199783C>T | NCBI36 |
| NG_008297.1:g.5728G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.555+10G>A MANE Select | ENSP00000252242.4:n.555+10G>A | |
| ENST00000252242.8:c.555+10G>A | ENSP00000252242.4:n.555+10G>A | |
| ENST00000549420.1:c.225+10G>A | ENSP00000447209.1:n.225+10G>A | |
| ENST00000552629.5:n.653+10G>A | ||
| NM_000424.3:c.555+10G>A | NP_000415.2:n.555+10G>A | |
| NM_000424.4:c.555+10G>A MANE Select | NP_000415.2:n.555+10G>A |