Linked Data
ClinVar Variation Id:
427152
dbSNP Id:
rs375733283
ExAC:
3:193385048 G / A
gnomAD v2:
3-193385048-G-A
gnomAD v3:
3-193667259-G-A
gnomAD v4:
3-193667259-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193667259G>A , CM000665.2:g.193667259G>A | GRCh38 |
| NC_000003.11:g.193385048G>A , CM000665.1:g.193385048G>A | GRCh37 |
| NC_000003.10:g.194867742G>A | NCBI36 |
| NG_011605.1:g.79116G>A , LRG_337:g.79116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2962G>A MANE Select | ENSP00000355324.2:p.Val988Ile | |
| ENST00000361828.7:c.2797G>A | ENSP00000354429.3:p.Val933Ile | |
| ENST00000361908.8:c.2908G>A | ENSP00000354681.3:p.Val970Ile | |
| ENST00000392436.7:c.2797G>A | ENSP00000376231.3:p.Val933Ile | |
| ENST00000392437.6:c.2851G>A | ENSP00000376232.2:p.Val951Ile | |
| ENST00000642289.1:c.2736G>A | ||
| ENST00000642445.1:c.2797G>A | ENSP00000495535.1:p.Val933Ile | |
| ENST00000642593.1:c.*1022G>A | ENSP00000494273.1:n.*1022G>A | |
| ENST00000643329.1:c.2479G>A | ENSP00000493673.1:p.Val827Ile | |
| ENST00000643737.1:c.*2878G>A | ENSP00000494210.1:n.*2878G>A | |
| ENST00000644595.1:c.2797G>A | ENSP00000494121.1:p.Val933Ile | |
| ENST00000644629.1:c.2384G>A | ||
| ENST00000644841.1:c.*1281G>A | ENSP00000493988.1:n.*1281G>A | |
| ENST00000644959.1:c.2791G>A | ||
| ENST00000645553.1:c.2812G>A | ENSP00000494725.1:p.Val938Ile | |
| ENST00000646085.1:c.*2275G>A | ENSP00000494509.1:n.*2275G>A | |
| ENST00000646277.1:c.*1398G>A | ENSP00000495289.1:n.*1398G>A | |
| ENST00000646544.1:c.1785G>A | ||
| ENST00000646699.1:c.2736G>A | ||
| ENST00000646793.1:c.2689G>A | ENSP00000494512.1:p.Val897Ile | |
| ENST00000361150.6:c.2800G>A | ENSP00000354781.2:p.Val934Ile | |
| ENST00000361510.6:c.2962G>A | ENSP00000355324.2:p.Val988Ile | |
| ENST00000361715.6:c.2854G>A | ENSP00000355311.2:p.Val952Ile | |
| ENST00000361828.6:c.2851G>A | ENSP00000354429.2:p.Val951Ile | |
| ENST00000361908.7:c.2908G>A | ENSP00000354681.3:p.Val970Ile | |
| ENST00000392438.7:c.2797G>A | ENSP00000376233.3:p.Val933Ile | |
| ENST00000429164.1:c.84G>A | ||
| ENST00000445863.1:c.373G>A | ENSP00000398358.1:p.Val125Ile | |
| NM_015560.2:c.2797G>A , LRG_337t1:c.2797G>A | NP_056375.2:p.Val933Ile | |
| NM_130831.2:c.2689G>A | NP_570844.1:p.Val897Ile | |
| NM_130832.2:c.2743G>A | NP_570845.1:p.Val915Ile | |
| NM_130833.2:c.2800G>A | NP_570846.1:p.Val934Ile | |
| NM_130834.2:c.2851G>A | NP_570847.2:p.Val951Ile | |
| NM_130835.2:c.2854G>A | NP_570848.1:p.Val952Ile | |
| NM_130836.2:c.2908G>A | NP_570849.2:p.Val970Ile | |
| NM_130837.2:c.2962G>A , LRG_337t2:c.2962G>A | NP_570850.2:p.Val988Ile | |
| XM_011512863.1:c.2962G>A | XP_011511165.1:p.Val988Ile | |
| XM_011512864.1:c.2908G>A | XP_011511166.1:p.Val970Ile | |
| XM_011512865.1:c.2851G>A | XP_011511167.1:p.Val951Ile | |
| XM_011512866.1:c.2800G>A | XP_011511168.1:p.Val934Ile | |
| XM_011512867.1:c.2797G>A | XP_011511169.1:p.Val933Ile | |
| XM_011512868.1:c.2689G>A | XP_011511170.1:p.Val897Ile | |
| XR_924835.1:n.582+1661C>T | ||
| NM_001354663.1:c.2428G>A | NP_001341592.1:p.Val810Ile | |
| NM_001354664.1:c.2425G>A | NP_001341593.1:p.Val809Ile | |
| XR_001740158.2:n.3216G>A | ||
| XR_001740159.2:n.3051G>A | ||
| XR_001741072.1:n.600+1661C>T | ||
| XR_001741074.1:n.475+3549C>T | ||
| XR_924835.2:n.600+1661C>T | ||
| NM_001354663.2:c.2428G>A | NP_001341592.1:p.Val810Ile | |
| NM_001354664.2:c.2425G>A | NP_001341593.1:p.Val809Ile | |
| NM_130831.3:c.2689G>A | NP_570844.1:p.Val897Ile | |
| NM_130832.3:c.2743G>A | NP_570845.1:p.Val915Ile | |
| NM_130834.3:c.2851G>A | NP_570847.2:p.Val951Ile | |
| NM_130836.3:c.2908G>A | NP_570849.2:p.Val970Ile | |
| NM_015560.3:c.2797G>A | NP_056375.2:p.Val933Ile | |
| NM_130833.3:c.2800G>A | NP_570846.1:p.Val934Ile | |
| NM_130835.3:c.2854G>A | NP_570848.1:p.Val952Ile | |
| NM_130837.3:c.2962G>A MANE Select | NP_570850.2:p.Val988Ile |