Linked Data
ClinVar Variation Id:
434891
dbSNP Id:
rs113782371
ExAC:
2:242707126 A / G
gnomAD v2:
2-242707126-A-G
gnomAD v3:
2-241767711-A-G
gnomAD v4:
2-241767711-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767711A>G , CM000664.2:g.241767711A>G | GRCh38 |
| NC_000002.11:g.242707126A>G , CM000664.1:g.242707126A>G | GRCh37 |
| NC_000002.10:g.242355799A>G | NCBI36 |
| NG_012012.1:g.38097A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1308A>G MANE Select | ENSP00000315351.4:p.Gly436= | |
| ENST00000321264.8:c.1308A>G | ENSP00000315351.4:p.Gly436= | |
| ENST00000400769.6:c.*58A>G | ENSP00000383580.2:n.*58A>G | |
| ENST00000403782.5:c.906A>G | ENSP00000384723.1:p.Gly302= | |
| ENST00000436747.5:c.*2544A>G | ENSP00000400212.1:n.*2544A>G | |
| ENST00000445308.1:c.704A>G | ||
| ENST00000468064.5:n.1198A>G | ||
| ENST00000470343.5:n.789A>G | ||
| ENST00000473126.1:n.507A>G | ||
| ENST00000486953.5:n.1134-2A>G | ||
| ENST00000610344.1:c.*152A>G | ENSP00000481906.1:n.*152A>G | |
| NM_001287249.1:c.906A>G | NP_001274178.1:p.Gly302= | |
| NM_152783.4:c.1308A>G | NP_689996.4:p.Gly436= | |
| NR_109778.1:n.1230A>G | ||
| XM_011511734.1:c.1428A>G | XP_011510036.1:p.Gly476= | |
| XM_011511735.1:c.1386A>G | XP_011510037.1:p.Gly462= | |
| XM_011511736.1:c.1350A>G | XP_011510038.1:p.Gly450= | |
| XM_011511744.1:c.*40A>G | XP_011510046.1:n.*40A>G | |
| XM_011511750.1:c.1220A>G | XP_011510052.1:p.Glu407Gly | |
| XM_011511754.1:c.867A>G | XP_011510056.1:p.Gly289= | |
| XM_011511755.1:c.858A>G | XP_011510057.1:p.Gly286= | |
| XM_011511756.1:c.855A>G | XP_011510058.1:p.Gly285= | |
| XR_923004.1:n.1940A>G | ||
| XR_923007.1:n.1650A>G | ||
| XR_923011.1:n.1751A>G | ||
| NM_001352824.1:c.747A>G | NP_001339753.1:p.Gly249= | |
| XM_011511734.2:c.1428A>G | XP_011510036.1:p.Gly476= | |
| XM_011511735.2:c.1386A>G | XP_011510037.1:p.Gly462= | |
| XM_011511736.2:c.1350A>G | XP_011510038.1:p.Gly450= | |
| XM_011511744.2:c.*40A>G | XP_011510046.1:n.*40A>G | |
| XM_011511750.3:c.1220A>G | XP_011510052.1:p.Glu407Gly | |
| XM_011511756.2:c.855A>G | XP_011510058.1:p.Gly285= | |
| XM_024453102.1:c.1200A>G | XP_024308870.1:p.Gly400= | |
| XR_001738918.2:n.1682A>G | ||
| XR_001738919.2:n.1616A>G | ||
| XR_923004.3:n.1939A>G | ||
| XR_923007.3:n.1649A>G | ||
| XR_923011.3:n.1750A>G | ||
| NM_152783.5:c.1308A>G MANE Select | NP_689996.4:p.Gly436= | |
| NM_001287249.2:c.906A>G | NP_001274178.1:p.Gly302= | |
| NM_001352824.2:c.747A>G | NP_001339753.1:p.Gly249= | |
| NR_109778.2:n.1179A>G |