Linked Data
ClinVar Variation Id:
514812
dbSNP Id:
rs544972589
ExAC:
11:78180329 T / C
gnomAD v2:
11-78180329-T-C
gnomAD v3:
11-78469283-T-C
gnomAD v4:
11-78469283-T-C
COSMIC:
COSM4705508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78469283T>C , CM000673.2:g.78469283T>C | GRCh38 |
| NC_000011.9:g.78180329T>C , CM000673.1:g.78180329T>C | GRCh37 |
| NC_000011.8:g.77857977T>C | NCBI36 |
| NG_042046.1:g.110582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525345.6:n.480A>G | ||
| ENST00000529771.2:c.309A>G | ENSP00000435298.2:p.Leu103= | |
| ENST00000695114.1:n.3651A>G | ||
| ENST00000695115.1:c.309A>G | ENSP00000511705.1:p.Leu103= | |
| ENST00000695116.1:c.*16A>G | ENSP00000511706.1:n.*16A>G | |
| ENST00000695341.1:c.*655A>G | ENSP00000511816.1:n.*655A>G | |
| ENST00000695342.1:c.309A>G | ENSP00000511817.1:p.Leu103= | |
| ENST00000695343.1:c.309A>G | ENSP00000511818.1:p.Leu103= | |
| ENST00000695344.1:c.909A>G | ENSP00000511819.1:p.Leu303= | |
| ENST00000695345.1:c.309A>G | ENSP00000511820.1:p.Leu103= | |
| ENST00000695346.1:c.*407A>G | ENSP00000511821.1:n.*407A>G | |
| ENST00000695347.1:c.*462A>G | ENSP00000511822.1:n.*462A>G | |
| ENST00000695348.1:c.309A>G | ENSP00000511823.1:p.Leu103= | |
| ENST00000695349.1:c.990A>G | ENSP00000511824.1:p.Leu330= | |
| ENST00000695350.1:c.*161A>G | ENSP00000511825.1:n.*161A>G | |
| ENST00000695351.1:c.823-3270A>G | ENSP00000511826.1:n.823-3270A>G | |
| ENST00000695352.1:c.138A>G | ENSP00000511827.1:p.Leu46= | |
| ENST00000695353.1:c.-105-3270A>G | ENSP00000511828.1:n.-105-3270A>G | |
| ENST00000695354.1:c.990A>G | ENSP00000511829.1:p.Leu330= | |
| ENST00000695355.1:c.990A>G | ENSP00000511830.1:p.Leu330= | |
| ENST00000695356.1:c.*966A>G | ENSP00000511831.1:n.*966A>G | |
| ENST00000695357.1:c.959+9155A>G | ENSP00000511832.1:n.959+9155A>G | |
| ENST00000695358.1:c.990A>G | ENSP00000511833.1:p.Leu330= | |
| ENST00000695359.1:c.*647A>G | ENSP00000511834.1:n.*647A>G | |
| ENST00000695360.1:c.990A>G | ENSP00000511835.1:p.Leu330= | |
| ENST00000695361.1:c.*119A>G | ENSP00000511836.1:n.*119A>G | |
| ENST00000695362.1:c.*310A>G | ENSP00000511837.1:n.*310A>G | |
| ENST00000695366.1:c.990A>G | ENSP00000511838.1:p.Leu330= | |
| ENST00000281038.10:c.990A>G MANE Select | ENSP00000281038.5:p.Leu330= | |
| ENST00000281038.9:c.990A>G | ENSP00000281038.5:p.Leu330= | |
| ENST00000525345.5:c.480A>G | ||
| ENST00000528850.5:c.309A>G | ENSP00000432635.1:p.Leu103= | |
| ENST00000529880.1:c.595-3270A>G | ENSP00000432240.1:n.595-3270A>G | |
| NM_001243251.1:c.309A>G | NP_001230180.1:p.Leu103= | |
| NM_024678.5:c.990A>G | NP_078954.4:p.Leu330= | |
| XM_011545253.1:c.990A>G | XP_011543555.1:p.Leu330= | |
| XR_950050.1:n.1359A>G | ||
| XR_950051.1:n.1321A>G | ||
| XM_011545253.2:c.990A>G | XP_011543555.1:p.Leu330= | |
| XM_017018303.1:c.309A>G | XP_016873792.1:p.Leu103= | |
| XM_017018304.2:c.309A>G | XP_016873793.1:p.Leu103= | |
| XR_001747963.2:n.1344A>G | ||
| XR_001747964.2:n.1339A>G | ||
| XR_001747965.2:n.1339A>G | ||
| XR_001747966.2:n.1306A>G | ||
| NM_024678.6:c.990A>G MANE Select | NP_078954.4:p.Leu330= | |
| NM_001243251.2:c.309A>G | NP_001230180.1:p.Leu103= |