Linked Data
dbSNP Id:
rs539220817
ExAC:
2:242707232 G / A
gnomAD v2:
2-242707232-G-A
gnomAD v3:
2-241767817-G-A
gnomAD v4:
2-241767817-G-A
COSMIC:
COSM2910950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767817G>A , CM000664.2:g.241767817G>A | GRCh38 |
| NC_000002.11:g.242707232G>A , CM000664.1:g.242707232G>A | GRCh37 |
| NC_000002.10:g.242355905G>A | NCBI36 |
| NG_012012.1:g.38203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1414G>A MANE Select | ENSP00000315351.4:p.Val472Ile | |
| ENST00000321264.8:c.1414G>A | ENSP00000315351.4:p.Val472Ile | |
| ENST00000400769.6:c.*164G>A | ENSP00000383580.2:n.*164G>A | |
| ENST00000403782.5:c.1012G>A | ENSP00000384723.1:p.Val338Ile | |
| ENST00000436747.5:c.*2650G>A | ENSP00000400212.1:n.*2650G>A | |
| ENST00000445308.1:c.810G>A | ||
| ENST00000468064.5:n.1304G>A | ||
| ENST00000470343.5:n.895G>A | ||
| ENST00000473126.1:n.613G>A | ||
| ENST00000486953.5:n.1238G>A | ||
| ENST00000610344.1:c.*258G>A | ENSP00000481906.1:n.*258G>A | |
| NM_001287249.1:c.1012G>A | NP_001274178.1:p.Val338Ile | |
| NM_152783.4:c.1414G>A | NP_689996.4:p.Val472Ile | |
| NR_109778.1:n.1336G>A | ||
| XM_011511734.1:c.1534G>A | XP_011510036.1:p.Val512Ile | |
| XM_011511735.1:c.1492G>A | XP_011510037.1:p.Val498Ile | |
| XM_011511736.1:c.1456G>A | XP_011510038.1:p.Val486Ile | |
| XM_011511750.1:c.*81G>A | XP_011510052.1:n.*81G>A | |
| XM_011511754.1:c.973G>A | XP_011510056.1:p.Val325Ile | |
| XM_011511755.1:c.964G>A | XP_011510057.1:p.Val322Ile | |
| XM_011511756.1:c.961G>A | XP_011510058.1:p.Val321Ile | |
| XR_923004.1:n.2046G>A | ||
| XR_923007.1:n.1756G>A | ||
| XR_923011.1:n.1857G>A | ||
| NM_001352824.1:c.853G>A | NP_001339753.1:p.Val285Ile | |
| XM_011511734.2:c.1534G>A | XP_011510036.1:p.Val512Ile | |
| XM_011511735.2:c.1492G>A | XP_011510037.1:p.Val498Ile | |
| XM_011511736.2:c.1456G>A | XP_011510038.1:p.Val486Ile | |
| XM_011511750.3:c.*81G>A | XP_011510052.1:n.*81G>A | |
| XM_011511756.2:c.961G>A | XP_011510058.1:p.Val321Ile | |
| XM_024453102.1:c.1306G>A | XP_024308870.1:p.Val436Ile | |
| XR_001738918.2:n.1788G>A | ||
| XR_001738919.2:n.1722G>A | ||
| XR_923004.3:n.2045G>A | ||
| XR_923007.3:n.1755G>A | ||
| XR_923011.3:n.1856G>A | ||
| NM_152783.5:c.1414G>A MANE Select | NP_689996.4:p.Val472Ile | |
| NM_001287249.2:c.1012G>A | NP_001274178.1:p.Val338Ile | |
| NM_001352824.2:c.853G>A | NP_001339753.1:p.Val285Ile | |
| NR_109778.2:n.1285G>A |