Linked Data
ClinVar Variation Id:
342783
dbSNP Id:
rs139299149
ExAC:
3:121544943 T / C
gnomAD v2:
3-121544943-T-C
gnomAD v3:
3-121826096-T-C
gnomAD v4:
3-121826096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121826096T>C , CM000665.2:g.121826096T>C | GRCh38 |
| NC_000003.11:g.121544943T>C , CM000665.1:g.121544943T>C | GRCh37 |
| NC_000003.10:g.123027633T>C | NCBI36 |
| NG_015887.1:g.13984A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.348A>G MANE Select | ENSP00000311505.6:p.Leu116= | |
| ENST00000310864.10:c.348A>G | ENSP00000311505.6:p.Leu116= | |
| ENST00000349820.10:c.348A>G | ENSP00000323756.7:p.Leu116= | |
| ENST00000393650.7:c.348A>G | ENSP00000377261.3:p.Leu116= | |
| ENST00000460108.5:c.-205A>G | ENSP00000419168.1:n.-205A>G | |
| ENST00000498104.1:c.-111A>G | ENSP00000417832.1:n.-111A>G | |
| NM_001023570.2:c.348A>G | NP_001018864.2:p.Leu116= | |
| NM_001023571.2:c.348A>G | NP_001018865.2:p.Leu116= | |
| XM_005247911.2:c.348A>G | XP_005247968.1:p.Leu116= | |
| XM_005247912.1:c.-205A>G | XP_005247969.1:n.-205A>G | |
| XM_005247913.1:c.348A>G | XP_005247970.1:p.Leu116= | |
| XM_011513335.1:c.-111A>G | XP_011511637.1:n.-111A>G | |
| XR_924221.1:n.475A>G | ||
| NM_001023570.3:c.348A>G | NP_001018864.2:p.Leu116= | |
| NM_001023571.3:c.348A>G | NP_001018865.2:p.Leu116= | |
| NM_001319107.1:c.348A>G | NP_001306036.1:p.Leu116= | |
| NR_134968.1:n.562A>G | ||
| XM_005247911.4:c.348A>G | XP_005247968.1:p.Leu116= | |
| XM_005247912.3:c.-205A>G | XP_005247969.1:n.-205A>G | |
| XM_011513335.3:c.-111A>G | XP_011511637.1:n.-111A>G | |
| XM_017007537.2:c.-111A>G | XP_016863026.1:n.-111A>G | |
| XM_017007539.2:c.348A>G | XP_016863028.1:p.Leu116= | |
| XM_024453833.1:c.-559A>G | XP_024309601.1:n.-559A>G | |
| XM_024453834.1:c.-559A>G | XP_024309602.1:n.-559A>G | |
| XR_001740376.2:n.476A>G | ||
| XR_001740377.2:n.476A>G | ||
| XR_001740378.2:n.476A>G | ||
| XR_001740379.2:n.476A>G | ||
| XR_001740380.2:n.476A>G | ||
| XR_001740381.2:n.476A>G | ||
| NM_001023570.4:c.348A>G MANE Select | NP_001018864.2:p.Leu116= | |
| NM_001023571.4:c.348A>G | NP_001018865.2:p.Leu116= | |
| NM_001319107.2:c.348A>G | NP_001306036.1:p.Leu116= | |
| NR_134968.2:n.543A>G |