Linked Data
ClinVar Variation Id:
7275
dbSNP Id:
rs121434452
gnomAD v3:
16-28844008-C-T
gnomAD v4:
16-28844008-C-T
PubMed:
PMID:17160893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844008C>T , CM000678.2:g.28844008C>T | GRCh38 |
| NC_000016.9:g.28855329C>T , CM000678.1:g.28855329C>T | GRCh37 |
| NC_000016.8:g.28762830C>T | NCBI36 |
| NG_008964.1:g.7401G>A | |
| NG_029706.2:g.2409C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313511.8:c.1016G>A MANE Select | ENSP00000322439.3:p.Arg339Gln | |
| ENST00000313511.7:c.1016G>A | ENSP00000322439.3:p.Arg339Gln | |
| ENST00000565012.1:c.*543G>A | ENSP00000455007.1:n.*543G>A | |
| ENST00000569217.1:n.325G>A | ||
| NM_003321.4:c.1016G>A | NP_003312.3:p.Arg339Gln | |
| XM_011545928.1:c.932G>A | XP_011544230.1:p.Arg311Gln | |
| NM_001365360.1:c.932G>A | NP_001352289.1:p.Arg311Gln | |
| NM_003321.5:c.1016G>A MANE Select | NP_003312.3:p.Arg339Gln | |
| NM_001365360.2:c.932G>A | NP_001352289.1:p.Arg311Gln |