Linked Data
ClinVar Variation Id:
3033708
ClinVar RCV Id:
RCV003911693
dbSNP Id:
rs530363077
ExAC:
16:51173205 G / A
gnomAD v2:
16-51173205-G-A
gnomAD v3:
16-51139294-G-A
gnomAD v4:
16-51139294-G-A
COSMIC:
COSM6053814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51139294G>A , CM000678.2:g.51139294G>A | GRCh38 |
| NC_000016.9:g.51173205G>A , CM000678.1:g.51173205G>A | GRCh37 |
| NC_000016.8:g.49730706G>A | NCBI36 |
| NG_007990.1:g.16979C>T , LRG_674:g.16979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.2928C>T | ENSP00000407914.2:p.His976= | |
| ENST00000570206.2:c.2637C>T | ENSP00000456777.2:p.His879= | |
| ENST00000685868.1:c.2928C>T | ENSP00000509873.1:p.His976= | |
| ENST00000690502.1:c.2928C>T | ENSP00000510560.1:p.His976= | |
| ENST00000251020.9:c.2928C>T MANE Select | ENSP00000251020.4:p.His976= | |
| ENST00000251020.8:c.2928C>T | ENSP00000251020.4:p.His976= | |
| ENST00000440970.5:c.2637C>T | ENSP00000407914.1:p.His879= | |
| ENST00000566102.1:c.77-1742C>T | ENSP00000455582.1:n.77-1742C>T | |
| ENST00000570206.1:c.2637C>T | ENSP00000456777.1:p.His879= | |
| NM_001127892.1:c.2637C>T | NP_001121364.1:p.His879= | |
| NM_002968.2:c.2928C>T , LRG_674t1:c.2928C>T | NP_002959.2:p.His976= | |
| XM_006721241.2:c.2928C>T | XP_006721304.1:p.His976= | |
| XM_011523254.1:c.2928C>T | XP_011521556.1:p.His976= | |
| XM_011523255.1:c.2928C>T | XP_011521557.1:p.His976= | |
| NM_002968.3:c.2928C>T MANE Select | NP_002959.2:p.His976= | |
| NM_001127892.2:c.2637C>T | NP_001121364.1:p.His879= |