Linked Data
ClinVar Variation Id:
193418
dbSNP Id:
rs794726944
gnomAD v2:
16-5121999-A-G
gnomAD v4:
16-5071998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5071998A>G , CM000678.2:g.5071998A>G | GRCh38 |
| NC_000016.9:g.5121999A>G , CM000678.1:g.5121999A>G | GRCh37 |
| NC_000016.8:g.5062000A>G | NCBI36 |
| NG_009202.1:g.5190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.156A>G | ||
| ENST00000682020.1:c.-55-5447A>G | ENSP00000508075.1:n.-55-5447A>G | |
| ENST00000682206.1:c.149A>G | ENSP00000508285.1:p.Gln50Arg | |
| ENST00000682314.1:n.193A>G | ||
| ENST00000682327.1:c.-99-3390A>G | ENSP00000507058.1:n.-99-3390A>G | |
| ENST00000682349.1:n.156A>G | ||
| ENST00000682703.1:n.156A>G | ||
| ENST00000682797.1:c.149A>G | ENSP00000507582.1:p.Gln50Arg | |
| ENST00000682985.1:c.-99-3390A>G | ENSP00000507598.1:n.-99-3390A>G | |
| ENST00000683433.1:c.-55-5447A>G | ENSP00000507463.1:n.-55-5447A>G | |
| ENST00000683685.1:n.193A>G | ||
| ENST00000683710.1:c.149A>G | ENSP00000506785.1:p.Gln50Arg | |
| ENST00000683772.1:n.193A>G | ||
| ENST00000684008.1:c.142+7A>G | ENSP00000507962.1:n.142+7A>G | |
| ENST00000684190.1:c.149A>G | ENSP00000507554.1:p.Gln50Arg | |
| ENST00000684335.1:c.149A>G | ENSP00000508112.1:p.Gln50Arg | |
| ENST00000262374.10:c.149A>G MANE Select | ENSP00000262374.5:p.Gln50Arg | |
| ENST00000650085.1:n.1013-953A>G | ||
| ENST00000262374.9:c.149A>G | ENSP00000262374.4:p.Gln50Arg | |
| ENST00000586840.1:c.149A>G | ENSP00000467538.1:p.Gln50Arg | |
| ENST00000588623.5:c.-125-953A>G | ENSP00000468118.1:n.-125-953A>G | |
| ENST00000591822.5:c.149A>G | ENSP00000467865.1:p.Gln50Arg | |
| ENST00000592793.5:n.156A>G | ||
| NM_019109.4:c.149A>G | NP_061982.3:p.Gln50Arg | |
| XR_932882.1:n.190A>G | ||
| XM_017023457.2:c.149A>G | XP_016878946.1:p.Gln50Arg | |
| XM_017023458.1:c.-341A>G | XP_016878947.1:n.-341A>G | |
| XR_932882.3:n.174A>G | ||
| NM_019109.5:c.149A>G MANE Select | NP_061982.3:p.Gln50Arg |