Linked Data
dbSNP Id:
rs777927647
ExAC:
2:242707153 G / A
gnomAD v2:
2-242707153-G-A
gnomAD v4:
2-241767738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767738G>A , CM000664.2:g.241767738G>A | GRCh38 |
| NC_000002.11:g.242707153G>A , CM000664.1:g.242707153G>A | GRCh37 |
| NC_000002.10:g.242355826G>A | NCBI36 |
| NG_012012.1:g.38124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1335G>A MANE Select | ENSP00000315351.4:p.Thr445= | |
| ENST00000321264.8:c.1335G>A | ENSP00000315351.4:p.Thr445= | |
| ENST00000400769.6:c.*85G>A | ENSP00000383580.2:n.*85G>A | |
| ENST00000403782.5:c.933G>A | ENSP00000384723.1:p.Thr311= | |
| ENST00000436747.5:c.*2571G>A | ENSP00000400212.1:n.*2571G>A | |
| ENST00000445308.1:c.731G>A | ||
| ENST00000468064.5:n.1225G>A | ||
| ENST00000470343.5:n.816G>A | ||
| ENST00000473126.1:n.534G>A | ||
| ENST00000486953.5:n.1159G>A | ||
| ENST00000610344.1:c.*179G>A | ENSP00000481906.1:n.*179G>A | |
| NM_001287249.1:c.933G>A | NP_001274178.1:p.Thr311= | |
| NM_152783.4:c.1335G>A | NP_689996.4:p.Thr445= | |
| NR_109778.1:n.1257G>A | ||
| XM_011511734.1:c.1455G>A | XP_011510036.1:p.Thr485= | |
| XM_011511735.1:c.1413G>A | XP_011510037.1:p.Thr471= | |
| XM_011511736.1:c.1377G>A | XP_011510038.1:p.Thr459= | |
| XM_011511744.1:c.*67G>A | XP_011510046.1:n.*67G>A | |
| XM_011511750.1:c.*2G>A | XP_011510052.1:n.*2G>A | |
| XM_011511754.1:c.894G>A | XP_011510056.1:p.Thr298= | |
| XM_011511755.1:c.885G>A | XP_011510057.1:p.Thr295= | |
| XM_011511756.1:c.882G>A | XP_011510058.1:p.Thr294= | |
| XR_923004.1:n.1967G>A | ||
| XR_923007.1:n.1677G>A | ||
| XR_923011.1:n.1778G>A | ||
| NM_001352824.1:c.774G>A | NP_001339753.1:p.Thr258= | |
| XM_011511734.2:c.1455G>A | XP_011510036.1:p.Thr485= | |
| XM_011511735.2:c.1413G>A | XP_011510037.1:p.Thr471= | |
| XM_011511736.2:c.1377G>A | XP_011510038.1:p.Thr459= | |
| XM_011511744.2:c.*67G>A | XP_011510046.1:n.*67G>A | |
| XM_011511750.3:c.*2G>A | XP_011510052.1:n.*2G>A | |
| XM_011511756.2:c.882G>A | XP_011510058.1:p.Thr294= | |
| XM_024453102.1:c.1227G>A | XP_024308870.1:p.Thr409= | |
| XR_001738918.2:n.1709G>A | ||
| XR_001738919.2:n.1643G>A | ||
| XR_923004.3:n.1966G>A | ||
| XR_923007.3:n.1676G>A | ||
| XR_923011.3:n.1777G>A | ||
| NM_152783.5:c.1335G>A MANE Select | NP_689996.4:p.Thr445= | |
| NM_001287249.2:c.933G>A | NP_001274178.1:p.Thr311= | |
| NM_001352824.2:c.774G>A | NP_001339753.1:p.Thr258= | |
| NR_109778.2:n.1206G>A |