Linked Data
dbSNP Id:
rs771029395
ExAC:
12:5153310 C / A
gnomAD v2:
12-5153310-C-A
gnomAD v4:
12-5044144-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044144C>A , CM000674.2:g.5044144C>A | GRCh38 |
| NC_000012.11:g.5153310C>A , CM000674.1:g.5153310C>A | GRCh37 |
| NC_000012.10:g.5023571C>A | NCBI36 |
| NG_012198.1:g.5226C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.-4C>A MANE Select | ENSP00000252321.3:n.-4C>A | |
| ENST00000252321.4:c.-4C>A | ENSP00000252321.3:n.-4C>A | |
| NM_002234.3:c.-4C>A | NP_002225.2:n.-4C>A | |
| NM_002234.4:c.-4C>A MANE Select | NP_002225.2:n.-4C>A |