Linked Data
ClinVar Variation Id:
561699
ClinVar RCV Id:
RCV000681060
dbSNP Id:
rs1370520807
gnomAD v3:
1-114713943-T-G
gnomAD v4:
1-114713943-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713943T>G , CM000663.2:g.114713943T>G | GRCh38 |
| NC_000001.10:g.115256564T>G , CM000663.1:g.115256564T>G | GRCh37 |
| NC_000001.9:g.115058087T>G | NCBI36 |
| NG_007572.1:g.7952A>C , LRG_92:g.7952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.147A>C MANE Select | ENSP00000358548.4:p.Glu49Asp | |
| ENST00000369535.4:c.147A>C | ENSP00000358548.4:p.Glu49Asp | |
| NM_002524.4:c.147A>C | NP_002515.1:p.Glu49Asp | |
| NM_002524.5:c.147A>C MANE Select | NP_002515.1:p.Glu49Asp |