Linked Data
ClinVar Variation Id:
668516
dbSNP Id:
rs1209133488
gnomAD v2:
15-68500730-G-T
gnomAD v4:
15-68208392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208392G>T , CM000677.2:g.68208392G>T | GRCh38 |
| NC_000015.9:g.68500730G>T , CM000677.1:g.68500730G>T | GRCh37 |
| NC_000015.8:g.66287784G>T | NCBI36 |
| NG_008764.2:g.53820C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.684C>A MANE Select | ENSP00000249806.5:p.Gly228= | |
| ENST00000562767.2:c.84-10764C>A | ENSP00000456336.1:n.84-10764C>A | |
| ENST00000563917.2:n.526C>A | ||
| ENST00000565471.6:c.225C>A | ENSP00000457384.1:p.Gly75= | |
| ENST00000635747.1:c.*587C>A | ENSP00000490627.1:n.*587C>A | |
| ENST00000636212.1:c.*354C>A | ENSP00000489851.1:n.*354C>A | |
| ENST00000636674.1:n.1786C>A | ||
| ENST00000636964.1:n.2212C>A | ||
| ENST00000637054.1:c.198+10144C>A | ENSP00000490807.1:n.198+10144C>A | |
| ENST00000637329.1:c.653C>A | ||
| ENST00000637450.1:c.*338C>A | ENSP00000490204.1:n.*338C>A | |
| ENST00000637494.1:c.396C>A | ENSP00000490057.1:p.Gly132= | |
| ENST00000637667.1:c.585C>A | ENSP00000489843.1:p.Gly195= | |
| ENST00000637823.1:c.509C>A | ||
| ENST00000637888.1:c.198+10144C>A | ENSP00000490546.1:n.198+10144C>A | |
| ENST00000638076.1:c.*287C>A | ENSP00000490373.1:n.*287C>A | |
| ENST00000638144.1:n.327C>A | ||
| ENST00000646164.1:c.39-8711C>A | ||
| ENST00000249806.9:c.684C>A | ENSP00000249806.5:p.Gly228= | |
| ENST00000538696.5:c.780C>A | ENSP00000445770.1:p.Gly260= | |
| ENST00000562767.1:c.84-10764C>A | ENSP00000456336.1:n.84-10764C>A | |
| ENST00000564752.1:c.*68C>A | ENSP00000457822.1:n.*68C>A | |
| ENST00000565471.5:c.225C>A | ENSP00000457384.1:p.Gly75= | |
| ENST00000566347.5:c.495C>A | ENSP00000457783.1:p.Gly165= | |
| ENST00000567060.5:c.*82C>A | ENSP00000454818.1:n.*82C>A | |
| NM_017882.2:c.684C>A | NP_060352.1:p.Gly228= | |
| NM_017882.3:c.684C>A MANE Select | NP_060352.1:p.Gly228= |