Linked Data
ClinVar Variation Id:
206090
dbSNP Id:
rs377062993
ExAC:
2:149240988 A / G
gnomAD v2:
2-149240988-A-G
gnomAD v3:
2-148483419-A-G
gnomAD v4:
2-148483419-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.148483419A>G , CM000664.2:g.148483419A>G | GRCh38 |
| NC_000002.11:g.149240988A>G , CM000664.1:g.149240988A>G | GRCh37 |
| NC_000002.10:g.148957458A>G | NCBI36 |
| NG_017003.1:g.467409A>G | |
| NG_017003.2:g.467409A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000628572.2:c.1264A>G | ||
| ENST00000638043.2:c.2828A>G | ENSP00000490728.2:p.Gln943Arg | |
| ENST00000642680.2:c.2828A>G MANE Select | ENSP00000493871.2:p.Gln943Arg | |
| ENST00000404807.5:c.2828A>G | ENSP00000384672.1:p.Gln943Arg | |
| ENST00000407073.5:c.2828A>G | ENSP00000386049.1:p.Gln943Arg | |
| ENST00000416015.2:c.2047A>G | ||
| ENST00000629878.2:c.2828A>G | ENSP00000487089.1:p.Gln943Arg | |
| NM_018328.4:c.2828A>G | NP_060798.2:p.Gln943Arg | |
| XM_005263711.2:c.2828A>G | XP_005263768.1:p.Gln943Arg | |
| XM_011511470.1:c.2828A>G | XP_011509772.1:p.Gln943Arg | |
| XM_011511471.1:c.2828A>G | XP_011509773.1:p.Gln943Arg | |
| XM_011511472.1:c.2828A>G | XP_011509774.1:p.Gln943Arg | |
| XM_011511473.1:c.2828A>G | XP_011509775.1:p.Gln943Arg | |
| XM_011511474.1:c.2828A>G | XP_011509776.1:p.Gln943Arg | |
| XM_011511475.1:c.2828A>G | XP_011509777.1:p.Gln943Arg | |
| XM_011511476.1:c.2828A>G | XP_011509778.1:p.Gln943Arg | |
| XR_922967.1:n.4057A>G | ||
| XM_011511470.2:c.2828A>G | XP_011509772.1:p.Gln943Arg | |
| XM_011511472.2:c.2828A>G | XP_011509774.1:p.Gln943Arg | |
| XM_024452987.1:c.2828A>G | XP_024308755.1:p.Gln943Arg | |
| XM_024452988.1:c.2828A>G | XP_024308756.1:p.Gln943Arg | |
| XM_024452989.1:c.2828A>G | XP_024308757.1:p.Gln943Arg | |
| XM_024452990.1:c.2828A>G | XP_024308758.1:p.Gln943Arg | |
| XR_002959318.1:n.3140A>G | ||
| XR_002959319.1:n.3140A>G | ||
| NM_001378120.1:c.2828A>G MANE Select | NP_001365049.1:p.Gln943Arg | |
| NM_018328.5:c.2828A>G | NP_060798.2:p.Gln943Arg |