Linked Data
ClinVar Variation Id:
225434
dbSNP Id:
rs188985665
ExAC:
2:178879115 G / A
gnomAD v2:
2-178879115-G-A
gnomAD v3:
2-178014388-G-A
gnomAD v4:
2-178014388-G-A
PubMed:
PMID:16767104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014388G>A , CM000664.2:g.178014388G>A | GRCh38 |
| NC_000002.11:g.178879115G>A , CM000664.1:g.178879115G>A | GRCh37 |
| NC_000002.10:g.178587361G>A | NCBI36 |
| NG_012168.1:g.98952C>T | |
| NG_012168.2:g.98952C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286063.11:c.985C>T MANE Select | ENSP00000286063.5:p.Arg329Ter | |
| ENST00000286063.10:c.985C>T | ENSP00000286063.5:p.Arg329Ter | |
| ENST00000358450.8:c.235C>T | ENSP00000351232.4:p.Arg79Ter | |
| NM_001077197.1:c.235C>T | NP_001070665.1:p.Arg79Ter | |
| NM_016953.3:c.985C>T | NP_058649.3:p.Arg329Ter | |
| NM_016953.4:c.985C>T MANE Select | NP_058649.3:p.Arg329Ter | |
| NM_001077197.2:c.235C>T | NP_001070665.1:p.Arg79Ter |