Linked Data
ClinVar Variation Id:
203797
dbSNP Id:
rs199517715
ExAC:
3:182810333 C / T
gnomAD v2:
3-182810333-C-T
gnomAD v3:
3-183092545-C-T
gnomAD v4:
3-183092545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183092545C>T , CM000665.2:g.183092545C>T | GRCh38 |
| NC_000003.11:g.182810333C>T , CM000665.1:g.182810333C>T | GRCh37 |
| NC_000003.10:g.184293027C>T | NCBI36 |
| NG_008100.1:g.12033G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.137G>A MANE Select | ENSP00000265594.4:p.Gly46Glu | |
| ENST00000265594.8:c.137G>A | ENSP00000265594.4:p.Gly46Glu | |
| ENST00000466650.5:c.136+2014G>A | ENSP00000418979.1:n.136+2014G>A | |
| ENST00000473955.1:n.50G>A | ||
| ENST00000476176.5:c.136+2014G>A | ENSP00000420433.1:n.136+2014G>A | |
| ENST00000486226.1:c.137G>A | ENSP00000420223.1:p.Gly46Glu | |
| ENST00000487634.5:c.136+2014G>A | ENSP00000420591.1:n.136+2014G>A | |
| ENST00000490284.5:c.89+6807G>A | ENSP00000419328.1:n.89+6807G>A | |
| ENST00000492597.5:c.-55+2014G>A | ENSP00000419898.1:n.-55+2014G>A | |
| ENST00000495767.5:c.136+2014G>A | ENSP00000419658.1:n.136+2014G>A | |
| ENST00000497830.5:c.136+2014G>A | ENSP00000420088.1:n.136+2014G>A | |
| ENST00000497959.5:c.23G>A | ENSP00000420648.1:p.Gly8Glu | |
| ENST00000539926.5:c.-55+2014G>A | ENSP00000441253.2:n.-55+2014G>A | |
| ENST00000610757.4:c.-191G>A | ENSP00000480435.1:n.-191G>A | |
| ENST00000629669.2:c.23G>A | ENSP00000486824.1:p.Gly8Glu | |
| NM_001293273.1:c.44+2014G>A | NP_001280202.1:n.44+2014G>A | |
| NM_020166.4:c.137G>A | NP_064551.3:p.Gly46Glu | |
| NR_120639.1:n.283+2014G>A | ||
| NR_120640.1:n.804G>A | ||
| XM_006713702.1:c.-55+2014G>A | XP_006713765.1:n.-55+2014G>A | |
| XM_011512992.1:c.23G>A | XP_011511294.1:p.Gly8Glu | |
| XM_011512993.1:c.137G>A | XP_011511295.1:p.Gly46Glu | |
| XR_241502.2:n.284G>A | ||
| XR_924159.1:n.284G>A | ||
| NM_001363880.1:c.-55+2014G>A | NP_001350809.1:n.-55+2014G>A | |
| XM_011512992.2:c.23G>A | XP_011511294.1:p.Gly8Glu | |
| XR_001740207.2:n.260G>A | ||
| XR_001740208.2:n.260G>A | ||
| XR_001740209.2:n.230G>A | ||
| XR_001740210.1:n.226+2014G>A | ||
| XR_002959553.1:n.260G>A | ||
| XR_002959554.1:n.260G>A | ||
| XR_241502.3:n.230G>A | ||
| NM_020166.5:c.137G>A MANE Select | NP_064551.3:p.Gly46Glu | |
| NM_001293273.2:c.44+2014G>A | NP_001280202.1:n.44+2014G>A | |
| NR_120639.2:n.192+2014G>A | ||
| NR_120640.2:n.804G>A |