Linked Data
ClinVar Variation Id:
136706
dbSNP Id:
rs6478475
ExAC:
9:123182202 C / T
gnomAD v2:
9-123182202-C-T
gnomAD v3:
9-120419924-C-T
gnomAD v4:
9-120419924-C-T
COSMIC:
COSM3982722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120419924C>T , CM000671.2:g.120419924C>T | GRCh38 |
| NC_000009.11:g.123182202C>T , CM000671.1:g.123182202C>T | GRCh37 |
| NC_000009.10:g.122222023C>T | NCBI36 |
| NG_008999.1:g.165236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.3351G>A | ENSP00000354065.4:p.Leu1117= | |
| ENST00000416449.6:c.3945G>A | ENSP00000400395.2:p.Leu1315= | |
| ENST00000479584.2:n.2288G>A | ||
| ENST00000684780.1:n.4331G>A | ||
| ENST00000685866.1:c.*1868G>A | ENSP00000509484.1:n.*1868G>A | |
| ENST00000686376.1:c.4121G>A | ENSP00000510021.1:n.4121G>A | |
| ENST00000686842.1:n.7595G>A | ||
| ENST00000687279.1:c.4038G>A | ENSP00000508692.1:p.Leu1346= | |
| ENST00000687311.1:n.4004G>A | ||
| ENST00000687633.1:c.3942G>A | ENSP00000510289.1:p.Leu1314= | |
| ENST00000688923.1:n.3413G>A | ||
| ENST00000689688.1:c.4041G>A | ENSP00000510155.1:p.Leu1347= | |
| ENST00000690646.1:c.3945G>A | ENSP00000510383.1:p.Leu1315= | |
| ENST00000690814.1:c.*1217G>A | ENSP00000508792.1:n.*1217G>A | |
| ENST00000691504.1:n.3935G>A | ||
| ENST00000691551.1:c.210G>A | ||
| ENST00000692155.1:c.4121G>A | ENSP00000510290.1:n.4121G>A | |
| ENST00000692746.1:n.3948G>A | ||
| ENST00000693386.1:c.3909-23G>A | ENSP00000510003.1:n.3909-23G>A | |
| ENST00000693433.1:n.3935G>A | ||
| ENST00000693714.1:n.3988G>A | ||
| ENST00000693728.1:c.3945G>A | ENSP00000510580.1:p.Leu1315= | |
| ENST00000349780.9:c.4041G>A MANE Select | ENSP00000343818.4:p.Leu1347= | |
| ENST00000349780.8:c.4041G>A | ENSP00000343818.4:p.Leu1347= | |
| ENST00000360190.8:c.4041G>A | ENSP00000353317.4:p.Leu1347= | |
| ENST00000360822.7:c.3351G>A | ENSP00000354065.4:p.Leu1117= | |
| ENST00000416449.5:c.2223G>A | ENSP00000400395.1:p.Leu741= | |
| ENST00000425647.1:c.1071G>A | ENSP00000409941.1:p.Leu357= | |
| ENST00000473282.6:c.*2865G>A | ENSP00000419265.1:n.*2865G>A | |
| ENST00000480112.5:c.*1868G>A | ENSP00000418418.1:n.*1868G>A | |
| ENST00000483412.5:n.3349G>A | ||
| NM_001011649.2:c.4041G>A | NP_001011649.1:p.Leu1347= | |
| NM_001272039.1:c.3351G>A | NP_001258968.1:p.Leu1117= | |
| NM_018249.5:c.4041G>A | NP_060719.4:p.Leu1347= | |
| NR_073554.1:n.4310G>A | ||
| NR_073555.1:n.4233G>A | ||
| NR_073556.1:n.4440G>A | ||
| NR_073557.1:n.4313G>A | ||
| NR_073558.1:n.4310G>A | ||
| XM_006717182.1:c.3945G>A | XP_006717245.1:p.Leu1315= | |
| XM_006717185.1:c.3354G>A | XP_006717248.1:p.Leu1118= | |
| XM_011518860.1:c.4038G>A | XP_011517162.1:p.Leu1346= | |
| XM_011518861.1:c.4038G>A | XP_011517163.1:p.Leu1346= | |
| XM_017014921.1:c.3942G>A | XP_016870410.1:p.Leu1314= | |
| XM_017014922.1:c.3207G>A | XP_016870411.1:p.Leu1069= | |
| XM_017014923.1:c.3354G>A | XP_016870412.1:p.Leu1118= | |
| XM_017014924.1:c.1836G>A | XP_016870413.1:p.Leu612= | |
| NM_018249.6:c.4041G>A MANE Select | NP_060719.4:p.Leu1347= | |
| NM_001011649.3:c.4041G>A | NP_001011649.1:p.Leu1347= | |
| NR_073554.2:n.4307G>A | ||
| NR_073555.2:n.4230G>A | ||
| NR_073556.2:n.4437G>A | ||
| NR_073557.2:n.4310G>A | ||
| NR_073558.2:n.4307G>A | ||
| NM_001272039.2:c.3351G>A | NP_001258968.1:p.Leu1117= |