Linked Data
ClinVar Variation Id:
16073
dbSNP Id:
rs121918418
gnomAD v3:
5-151829009-G-T
gnomAD v4:
5-151829009-G-T
PubMed:
PMID:17536053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829009G>T , CM000667.2:g.151829009G>T | GRCh38 |
| NC_000005.9:g.151208570G>T , CM000667.1:g.151208570G>T | GRCh37 |
| NC_000005.8:g.151188763G>T | NCBI36 |
| NG_011764.1:g.100828C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.971C>A MANE Select | ENSP00000274576.5:p.Ser324Ter | |
| ENST00000274576.8:c.971C>A | ENSP00000274576.4:p.Ser324Ter | |
| ENST00000455880.2:c.971C>A | ENSP00000411593.2:p.Ser324Ter | |
| ENST00000462581.6:c.*729C>A | ENSP00000430595.1:n.*729C>A | |
| NM_000171.3:c.971C>A | NP_000162.2:p.Ser324Ter | |
| NM_001146040.1:c.971C>A | NP_001139512.1:p.Ser324Ter | |
| NM_001292000.1:c.722C>A | NP_001278929.1:p.Ser241Ter | |
| NM_000171.4:c.971C>A MANE Select | NP_000162.2:p.Ser324Ter | |
| NM_001146040.2:c.971C>A | NP_001139512.1:p.Ser324Ter | |
| NM_001292000.2:c.722C>A | NP_001278929.1:p.Ser241Ter |