Linked Data
ClinVar Variation Id:
14093
dbSNP Id:
rs121913629
gnomAD v4:
14-23423984-C-T
ERepo:
CA013144/MONDO:0005045/002
PubMed:
PMID:1552912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423984C>T , CM000676.2:g.23423984C>T | GRCh38 |
| NC_000014.8:g.23893193C>T , CM000676.1:g.23893193C>T | GRCh37 |
| NC_000014.7:g.22963033C>T | NCBI36 |
| NG_007884.1:g.16678G>A , LRG_384:g.16678G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.2845G>A MANE Select | ENSP00000347507.3:p.Glu949Lys | |
| ENST00000355349.3:c.2845G>A | ENSP00000347507.3:p.Glu949Lys | |
| NM_000257.3:c.2845G>A | NP_000248.2:p.Glu949Lys | |
| XR_245686.3:n.2951G>A | ||
| XM_017021340.1:c.2845G>A | XP_016876829.1:p.Glu949Lys | |
| NM_000257.4:c.2845G>A MANE Select | NP_000248.2:p.Glu949Lys |