Linked Data
ClinVar Variation Id:
2203300
ClinVar RCV Id:
RCV002664290
dbSNP Id:
rs768061160
gnomAD v2:
2-242707125-G-T
gnomAD v4:
2-241767710-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767710G>T , CM000664.2:g.241767710G>T | GRCh38 |
| NC_000002.11:g.242707125G>T , CM000664.1:g.242707125G>T | GRCh37 |
| NC_000002.10:g.242355798G>T | NCBI36 |
| NG_012012.1:g.38096G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1307G>T MANE Select | ENSP00000315351.4:p.Gly436Val | |
| ENST00000321264.8:c.1307G>T | ENSP00000315351.4:p.Gly436Val | |
| ENST00000400769.6:c.*57G>T | ENSP00000383580.2:n.*57G>T | |
| ENST00000403782.5:c.905G>T | ENSP00000384723.1:p.Gly302Val | |
| ENST00000436747.5:c.*2543G>T | ENSP00000400212.1:n.*2543G>T | |
| ENST00000445308.1:c.703G>T | ||
| ENST00000468064.5:n.1197G>T | ||
| ENST00000470343.5:n.788G>T | ||
| ENST00000473126.1:n.506G>T | ||
| ENST00000486953.5:n.1134-3G>T | ||
| ENST00000610344.1:c.*151G>T | ENSP00000481906.1:n.*151G>T | |
| NM_001287249.1:c.905G>T | NP_001274178.1:p.Gly302Val | |
| NM_152783.4:c.1307G>T | NP_689996.4:p.Gly436Val | |
| NR_109778.1:n.1229G>T | ||
| XM_011511734.1:c.1427G>T | XP_011510036.1:p.Gly476Val | |
| XM_011511735.1:c.1385G>T | XP_011510037.1:p.Gly462Val | |
| XM_011511736.1:c.1349G>T | XP_011510038.1:p.Gly450Val | |
| XM_011511744.1:c.*39G>T | XP_011510046.1:n.*39G>T | |
| XM_011511750.1:c.1219G>T | XP_011510052.1:p.Glu407Ter | |
| XM_011511754.1:c.866G>T | XP_011510056.1:p.Gly289Val | |
| XM_011511755.1:c.857G>T | XP_011510057.1:p.Gly286Val | |
| XM_011511756.1:c.854G>T | XP_011510058.1:p.Gly285Val | |
| XR_923004.1:n.1939G>T | ||
| XR_923007.1:n.1649G>T | ||
| XR_923011.1:n.1750G>T | ||
| NM_001352824.1:c.746G>T | NP_001339753.1:p.Gly249Val | |
| XM_011511734.2:c.1427G>T | XP_011510036.1:p.Gly476Val | |
| XM_011511735.2:c.1385G>T | XP_011510037.1:p.Gly462Val | |
| XM_011511736.2:c.1349G>T | XP_011510038.1:p.Gly450Val | |
| XM_011511744.2:c.*39G>T | XP_011510046.1:n.*39G>T | |
| XM_011511750.3:c.1219G>T | XP_011510052.1:p.Glu407Ter | |
| XM_011511756.2:c.854G>T | XP_011510058.1:p.Gly285Val | |
| XM_024453102.1:c.1199G>T | XP_024308870.1:p.Gly400Val | |
| XR_001738918.2:n.1681G>T | ||
| XR_001738919.2:n.1615G>T | ||
| XR_923004.3:n.1938G>T | ||
| XR_923007.3:n.1648G>T | ||
| XR_923011.3:n.1749G>T | ||
| NM_152783.5:c.1307G>T MANE Select | NP_689996.4:p.Gly436Val | |
| NM_001287249.2:c.905G>T | NP_001274178.1:p.Gly302Val | |
| NM_001352824.2:c.746G>T | NP_001339753.1:p.Gly249Val | |
| NR_109778.2:n.1178G>T |