Linked Data
ClinVar Variation Id:
224514
dbSNP Id:
rs143492730
ExAC:
2:74372349 G / A
gnomAD v2:
2-74372349-G-A
gnomAD v3:
2-74145222-G-A
gnomAD v4:
2-74145222-G-A
PubMed:
PMID:24334290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145222G>A , CM000664.2:g.74145222G>A | GRCh38 |
| NC_000002.11:g.74372349G>A , CM000664.1:g.74372349G>A | GRCh37 |
| NC_000002.10:g.74225857G>A | NCBI36 |
| NG_031910.1:g.7691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.136C>T MANE Select | ENSP00000331369.5:p.Arg46Ter | |
| ENST00000295326.4:c.136C>T | ENSP00000295326.4:p.Arg46Ter | |
| ENST00000327428.9:c.136C>T | ENSP00000331369.5:p.Arg46Ter | |
| ENST00000469676.1:n.1159C>T | ||
| ENST00000477685.5:n.287C>T | ||
| ENST00000484655.1:n.2691C>T | ||
| NM_001035505.1:c.136C>T | NP_001030582.1:p.Arg46Ter | |
| NM_212552.2:c.136C>T | NP_997717.2:p.Arg46Ter | |
| NM_212552.3:c.136C>T MANE Select | NP_997717.2:p.Arg46Ter | |
| NM_001035505.2:c.136C>T | NP_001030582.1:p.Arg46Ter |