Linked Data
ClinVar Variation Id:
225701
ClinVar RCV Id:
RCV000491696
dbSNP Id:
rs1114167279
gnomAD v3:
5-139394411-C-T
gnomAD v4:
5-139394411-C-T
PubMed:
PMID:27703147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139394411C>T , CM000667.2:g.139394411C>T | GRCh38 |
| NC_000005.9:g.138730100C>T , CM000667.1:g.138730100C>T | GRCh37 |
| NC_000005.8:g.138757999C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434752.4:c.671G>A MANE Select | ENSP00000416033.2:p.Gly224Asp | |
| ENST00000434752.3:c.671G>A | ENSP00000416033.2:p.Gly224Asp | |
| NM_001161546.1:c.671G>A | NP_001155018.1:p.Gly224Asp | |
| NM_001161546.2:c.671G>A MANE Select | NP_001155018.1:p.Gly224Asp |