Linked Data
ClinVar Variation Id:
545702
ClinVar RCV Id:
RCV000656736
dbSNP Id:
rs765256758
ExAC:
3:190120217 C / T
gnomAD v2:
3-190120217-C-T
gnomAD v3:
3-190402428-C-T
gnomAD v4:
3-190402428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402428C>T , CM000665.2:g.190402428C>T | GRCh38 |
| NC_000003.11:g.190120217C>T , CM000665.1:g.190120217C>T | GRCh37 |
| NC_000003.10:g.191602911C>T | NCBI36 |
| NG_008149.1:g.19377C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.206C>T MANE Select | ENSP00000264734.3:p.Ala69Val | |
| ENST00000456423.2:c.115-7475C>T | ENSP00000414136.2:n.115-7475C>T | |
| ENST00000264734.2:c.416C>T | ENSP00000264734.2:p.Ala139Val | |
| ENST00000456423.1:c.325-7475C>T | ENSP00000414136.1:n.325-7475C>T | |
| ENST00000468220.1:n.398C>T | ||
| NM_006580.3:c.416C>T | NP_006571.1:p.Ala139Val | |
| NM_001378492.1:c.206C>T | NP_001365421.1:p.Ala69Val | |
| NM_001378493.1:c.206C>T | NP_001365422.1:p.Ala69Val | |
| NM_006580.4:c.206C>T MANE Select | NP_006571.2:p.Ala69Val |