Linked Data
dbSNP Id:
rs201174379
ExAC:
12:14659857 T / A
gnomAD v2:
12-14659857-T-A
gnomAD v3:
12-14506923-T-A
gnomAD v4:
12-14506923-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14506923T>A , CM000674.2:g.14506923T>A | GRCh38 |
| NC_000012.11:g.14659857T>A , CM000674.1:g.14659857T>A | GRCh37 |
| NC_000012.10:g.14551124T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1372+10A>T MANE Select | ENSP00000240617.5:n.1372+10A>T | |
| ENST00000240617.9:c.1372+10A>T | ENSP00000240617.5:n.1372+10A>T | |
| NM_024829.5:c.1372+10A>T | NP_079105.4:n.1372+10A>T | |
| NM_024829.6:c.1372+10A>T MANE Select | NP_079105.4:n.1372+10A>T |