Linked Data
ClinVar Variation Id:
3344
dbSNP Id:
rs121434249
gnomAD v4:
2-31529323-C-T
PubMed:
PMID:9843052
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529323C>T , CM000664.2:g.31529323C>T | GRCh38 |
| NC_000002.11:g.31754393C>T , CM000664.1:g.31754393C>T | GRCh37 |
| NC_000002.10:g.31607897C>T | NCBI36 |
| NG_008365.1:g.56649G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.682G>A MANE Select | ENSP00000477587.1:p.Ala228Thr | |
| ENST00000622030.1:c.682G>A | ENSP00000477587.1:p.Ala228Thr | |
| NM_000348.3:c.682G>A | NP_000339.2:p.Ala228Thr | |
| XM_011533069.1:c.460G>A | XP_011531371.1:p.Ala154Thr | |
| XM_011533070.1:c.427G>A | XP_011531372.1:p.Ala143Thr | |
| XM_011533071.1:c.427G>A | XP_011531373.1:p.Ala143Thr | |
| XM_011533072.1:c.427G>A | XP_011531374.1:p.Ala143Thr | |
| XM_011533069.2:c.460G>A | XP_011531371.1:p.Ala154Thr | |
| XM_011533072.2:c.427G>A | XP_011531374.1:p.Ala143Thr | |
| NM_000348.4:c.682G>A MANE Select | NP_000339.2:p.Ala228Thr |