Linked Data
ClinVar Variation Id:
2954
dbSNP Id:
rs119460972
ExAC:
2:31609391 G / A
gnomAD v2:
2-31609391-G-A
gnomAD v3:
2-31386525-G-A
gnomAD v4:
2-31386525-G-A
PubMed:
PMID:9153281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31386525G>A , CM000664.2:g.31386525G>A | GRCh38 |
| NC_000002.11:g.31609391G>A , CM000664.1:g.31609391G>A | GRCh37 |
| NC_000002.10:g.31462895G>A | NCBI36 |
| NG_008871.1:g.33221C>T | |
| NG_008871.2:g.33221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.682C>T MANE Select | ENSP00000368727.3:p.Arg228Ter | |
| ENST00000379416.3:c.682C>T | ENSP00000368727.3:p.Arg228Ter | |
| ENST00000491727.5:n.225C>T | ||
| NM_000379.3:c.682C>T | NP_000370.2:p.Arg228Ter | |
| XM_011533095.1:c.682C>T | XP_011531397.1:p.Arg228Ter | |
| XM_011533096.1:c.682C>T | XP_011531398.1:p.Arg228Ter | |
| XM_011533095.2:c.682C>T | XP_011531397.1:p.Arg228Ter | |
| XM_011533096.2:c.682C>T | XP_011531398.1:p.Arg228Ter | |
| NM_000379.4:c.682C>T MANE Select | NP_000370.2:p.Arg228Ter |