Linked Data
ClinVar Variation Id:
576751
dbSNP Id:
rs970505762
gnomAD v2:
15-80472532-G-T
gnomAD v3:
15-80180190-G-T
gnomAD v4:
15-80180190-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180190G>T , CM000677.2:g.80180190G>T | GRCh38 |
| NC_000015.9:g.80472532G>T , CM000677.1:g.80472532G>T | GRCh37 |
| NC_000015.8:g.78259587G>T | NCBI36 |
| NG_012833.1:g.32192G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682012.1:n.1116G>T | ||
| ENST00000561421.6:c.1027G>T MANE Select | ENSP00000453347.2:p.Gly343Trp | |
| ENST00000646551.1:n.2641G>T | ||
| ENST00000261755.9:c.1027G>T | ENSP00000261755.5:p.Gly343Trp | |
| ENST00000407106.5:c.1027G>T | ENSP00000385080.1:p.Gly343Trp | |
| ENST00000539156.5:c.817G>T | ENSP00000454271.1:p.Gly273Trp | |
| ENST00000559217.1:n.244G>T | ||
| ENST00000561353.2:c.125G>T | ||
| ENST00000561421.5:c.1027G>T | ENSP00000453347.1:p.Gly343Trp | |
| NM_000137.2:c.1027G>T | NP_000128.1:p.Gly343Trp | |
| XM_024449872.1:c.1027G>T | XP_024305640.1:p.Gly343Trp | |
| NM_000137.4:c.1027G>T MANE Select | NP_000128.1:p.Gly343Trp | |
| NM_001374377.1:c.1027G>T | NP_001361306.1:p.Gly343Trp | |
| NM_001374380.1:c.1027G>T | NP_001361309.1:p.Gly343Trp |