Linked Data
ClinVar Variation Id:
1991906
ClinVar RCV Id:
RCV002790976
dbSNP Id:
rs142520373
ExAC:
3:193364861 A / G
gnomAD v2:
3-193364861-A-G
gnomAD v3:
3-193647072-A-G
gnomAD v4:
3-193647072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647072A>G , CM000665.2:g.193647072A>G | GRCh38 |
| NC_000003.11:g.193364861A>G , CM000665.1:g.193364861A>G | GRCh37 |
| NC_000003.10:g.194847555A>G | NCBI36 |
| NG_011605.1:g.58929A>G , LRG_337:g.58929A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1762A>G MANE Select | ENSP00000355324.2:p.Met588Val | |
| ENST00000361828.7:c.1597A>G | ENSP00000354429.3:p.Met533Val | |
| ENST00000361908.8:c.1708A>G | ENSP00000354681.3:p.Met570Val | |
| ENST00000392436.7:c.1597A>G | ENSP00000376231.3:p.Met533Val | |
| ENST00000392437.6:c.1651A>G | ENSP00000376232.2:p.Met551Val | |
| ENST00000642289.1:c.1536A>G | ||
| ENST00000642445.1:c.1597A>G | ENSP00000495535.1:p.Met533Val | |
| ENST00000642593.1:c.1597A>G | ENSP00000494273.1:p.Met533Val | |
| ENST00000643329.1:c.1279A>G | ENSP00000493673.1:p.Met427Val | |
| ENST00000643737.1:c.*1678A>G | ENSP00000494210.1:n.*1678A>G | |
| ENST00000644595.1:c.1597A>G | ENSP00000494121.1:p.Met533Val | |
| ENST00000644629.1:c.1184A>G | ||
| ENST00000644841.1:c.*81A>G | ENSP00000493988.1:n.*81A>G | |
| ENST00000644959.1:c.1566A>G | ||
| ENST00000645553.1:c.1612A>G | ENSP00000494725.1:p.Met538Val | |
| ENST00000646085.1:c.*1075A>G | ENSP00000494509.1:n.*1075A>G | |
| ENST00000646277.1:c.*198A>G | ENSP00000495289.1:n.*198A>G | |
| ENST00000646544.1:c.585A>G | ||
| ENST00000646699.1:c.1536A>G | ||
| ENST00000646793.1:c.1489A>G | ENSP00000494512.1:p.Met497Val | |
| ENST00000361150.6:c.1600A>G | ENSP00000354781.2:p.Met534Val | |
| ENST00000361510.6:c.1762A>G | ENSP00000355324.2:p.Met588Val | |
| ENST00000361715.6:c.1654A>G | ENSP00000355311.2:p.Met552Val | |
| ENST00000361828.6:c.1651A>G | ENSP00000354429.2:p.Met551Val | |
| ENST00000361908.7:c.1708A>G | ENSP00000354681.3:p.Met570Val | |
| ENST00000392438.7:c.1597A>G | ENSP00000376233.3:p.Met533Val | |
| ENST00000483516.1:n.95A>G | ||
| NM_015560.2:c.1597A>G , LRG_337t1:c.1597A>G | NP_056375.2:p.Met533Val | |
| NM_130831.2:c.1489A>G | NP_570844.1:p.Met497Val | |
| NM_130832.2:c.1543A>G | NP_570845.1:p.Met515Val | |
| NM_130833.2:c.1600A>G | NP_570846.1:p.Met534Val | |
| NM_130834.2:c.1651A>G | NP_570847.2:p.Met551Val | |
| NM_130835.2:c.1654A>G | NP_570848.1:p.Met552Val | |
| NM_130836.2:c.1708A>G | NP_570849.2:p.Met570Val | |
| NM_130837.2:c.1762A>G , LRG_337t2:c.1762A>G | NP_570850.2:p.Met588Val | |
| XM_011512863.1:c.1762A>G | XP_011511165.1:p.Met588Val | |
| XM_011512864.1:c.1708A>G | XP_011511166.1:p.Met570Val | |
| XM_011512865.1:c.1651A>G | XP_011511167.1:p.Met551Val | |
| XM_011512866.1:c.1600A>G | XP_011511168.1:p.Met534Val | |
| XM_011512867.1:c.1597A>G | XP_011511169.1:p.Met533Val | |
| XM_011512868.1:c.1489A>G | XP_011511170.1:p.Met497Val | |
| XM_011512869.1:c.1762A>G | XP_011511171.1:p.Met588Val | |
| NM_001354663.1:c.1228A>G | NP_001341592.1:p.Met410Val | |
| NM_001354664.1:c.1225A>G | NP_001341593.1:p.Met409Val | |
| XR_001740158.2:n.1991A>G | ||
| XR_001740159.2:n.1826A>G | ||
| NM_001354663.2:c.1228A>G | NP_001341592.1:p.Met410Val | |
| NM_001354664.2:c.1225A>G | NP_001341593.1:p.Met409Val | |
| NM_130831.3:c.1489A>G | NP_570844.1:p.Met497Val | |
| NM_130832.3:c.1543A>G | NP_570845.1:p.Met515Val | |
| NM_130834.3:c.1651A>G | NP_570847.2:p.Met551Val | |
| NM_130836.3:c.1708A>G | NP_570849.2:p.Met570Val | |
| NM_015560.3:c.1597A>G | NP_056375.2:p.Met533Val | |
| NM_130833.3:c.1600A>G | NP_570846.1:p.Met534Val | |
| NM_130835.3:c.1654A>G | NP_570848.1:p.Met552Val | |
| NM_130837.3:c.1762A>G MANE Select | NP_570850.2:p.Met588Val |