Linked Data
dbSNP Id:
rs1056464
ExAC:
12:5153995 C / A
gnomAD v2:
12-5153995-C-A
gnomAD v4:
12-5044829-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044829C>A , CM000674.2:g.5044829C>A | GRCh38 |
| NC_000012.11:g.5153995C>A , CM000674.1:g.5153995C>A | GRCh37 |
| NC_000012.10:g.5024256C>A | NCBI36 |
| NG_012198.1:g.5911C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.682C>A MANE Select | ENSP00000252321.3:p.Pro228Thr | |
| ENST00000252321.4:c.682C>A | ENSP00000252321.3:p.Pro228Thr | |
| NM_002234.3:c.682C>A | NP_002225.2:p.Pro228Thr | |
| NM_002234.4:c.682C>A MANE Select | NP_002225.2:p.Pro228Thr |