Linked Data
ClinVar Variation Id:
163502
dbSNP Id:
rs727503062
gnomAD v2:
19-3585717-C-A
gnomAD v3:
19-3585719-C-A
gnomAD v4:
19-3585719-C-A
PubMed:
PMID:23510777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3585719C>A , CM000681.2:g.3585719C>A | GRCh38 |
| NC_000019.9:g.3585717C>A , CM000681.1:g.3585717C>A | GRCh37 |
| NC_000019.8:g.3536717C>A | NCBI36 |
| NG_031943.1:g.5149C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.122C>A MANE Select | ENSP00000493901.2:p.Thr41Lys | |
| ENST00000644946.1:c.122C>A | ENSP00000495068.1:p.Thr41Lys | |
| ENST00000322315.5:c.122C>A | ENSP00000319254.5:p.Thr41Lys | |
| NM_133261.2:c.122C>A | NP_573568.1:p.Thr41Lys | |
| XM_005259492.2:c.122C>A | XP_005259549.1:p.Thr41Lys | |
| XM_005259492.3:c.122C>A | XP_005259549.1:p.Thr41Lys | |
| NM_133261.3:c.122C>A MANE Select | NP_573568.1:p.Thr41Lys |