Linked Data
dbSNP Id:
rs62636581
gnomAD v2:
5-151202403-G-T
gnomAD v3:
5-151822842-G-T
gnomAD v4:
5-151822842-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822842G>T , CM000667.2:g.151822842G>T | GRCh38 |
| NC_000005.9:g.151202403G>T , CM000667.1:g.151202403G>T | GRCh37 |
| NC_000005.8:g.151182596G>T | NCBI36 |
| NG_011764.1:g.106995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1181C>A MANE Select | ENSP00000274576.5:p.Pro394His | |
| ENST00000274576.8:c.1181C>A | ENSP00000274576.4:p.Pro394His | |
| ENST00000455880.2:c.1205C>A | ENSP00000411593.2:p.Pro402His | |
| ENST00000462581.6:c.*939C>A | ENSP00000430595.1:n.*939C>A | |
| NM_000171.3:c.1181C>A | NP_000162.2:p.Pro394His | |
| NM_001146040.1:c.1205C>A | NP_001139512.1:p.Pro402His | |
| NM_001292000.1:c.932C>A | NP_001278929.1:p.Pro311His | |
| NM_000171.4:c.1181C>A MANE Select | NP_000162.2:p.Pro394His | |
| NM_001146040.2:c.1205C>A | NP_001139512.1:p.Pro402His | |
| NM_001292000.2:c.932C>A | NP_001278929.1:p.Pro311His |