Linked Data
ClinVar Variation Id:
3045883
ClinVar RCV Id:
RCV003951570
dbSNP Id:
rs759663787
ExAC:
3:13896191 C / T
gnomAD v2:
3-13896191-C-T
gnomAD v3:
3-13854694-C-T
gnomAD v4:
3-13854694-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854694C>T , CM000665.2:g.13854694C>T | GRCh38 |
| NC_000003.11:g.13896191C>T , CM000665.1:g.13896191C>T | GRCh37 |
| NC_000003.10:g.13871192C>T | NCBI36 |
| NG_008088.1:g.30428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.408G>A MANE Select | ENSP00000285018.4:p.Glu136= | |
| ENST00000285018.4:c.408G>A | ENSP00000285018.4:p.Glu136= | |
| NM_004625.3:c.408G>A | NP_004616.2:p.Glu136= | |
| XM_011534090.1:c.207G>A | XP_011532392.1:p.Glu69= | |
| XM_011534091.1:c.207G>A | XP_011532393.1:p.Glu69= | |
| XM_011534091.2:c.207G>A | XP_011532393.1:p.Glu69= | |
| NM_004625.4:c.408G>A MANE Select | NP_004616.2:p.Glu136= |