Linked Data
ClinVar Variation Id:
798868
ClinVar RCV Id:
RCV000982437
dbSNP Id:
rs779030198
ExAC:
3:193355803 T / C
gnomAD v2:
3-193355803-T-C
gnomAD v3:
3-193638014-T-C
gnomAD v4:
3-193638014-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638014T>C , CM000665.2:g.193638014T>C | GRCh38 |
| NC_000003.11:g.193355803T>C , CM000665.1:g.193355803T>C | GRCh37 |
| NC_000003.10:g.194838497T>C | NCBI36 |
| NG_011605.1:g.49871T>C , LRG_337:g.49871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1098T>C MANE Select | ENSP00000355324.2:p.Ala366= | |
| ENST00000361828.7:c.933T>C | ENSP00000354429.3:p.Ala311= | |
| ENST00000361908.8:c.1044T>C | ENSP00000354681.3:p.Ala348= | |
| ENST00000392436.7:c.933T>C | ENSP00000376231.3:p.Ala311= | |
| ENST00000392437.6:c.987T>C | ENSP00000376232.2:p.Ala329= | |
| ENST00000642289.1:c.1028T>C | ||
| ENST00000642445.1:c.933T>C | ENSP00000495535.1:p.Ala311= | |
| ENST00000642593.1:c.933T>C | ENSP00000494273.1:p.Ala311= | |
| ENST00000643329.1:c.615T>C | ENSP00000493673.1:p.Ala205= | |
| ENST00000643737.1:c.*1014T>C | ENSP00000494210.1:n.*1014T>C | |
| ENST00000644595.1:c.933T>C | ENSP00000494121.1:p.Ala311= | |
| ENST00000644629.1:c.593T>C | ||
| ENST00000644841.1:c.561T>C | ENSP00000493988.1:p.Ala187= | |
| ENST00000644959.1:c.902T>C | ||
| ENST00000645553.1:c.948T>C | ENSP00000494725.1:p.Ala316= | |
| ENST00000646085.1:c.*411T>C | ENSP00000494509.1:n.*411T>C | |
| ENST00000646277.1:c.1098T>C | ENSP00000495289.1:p.Ala366= | |
| ENST00000646699.1:c.1028T>C | ||
| ENST00000646793.1:c.825T>C | ENSP00000494512.1:p.Ala275= | |
| ENST00000361150.6:c.936T>C | ENSP00000354781.2:p.Ala312= | |
| ENST00000361510.6:c.1098T>C | ENSP00000355324.2:p.Ala366= | |
| ENST00000361715.6:c.990T>C | ENSP00000355311.2:p.Ala330= | |
| ENST00000361828.6:c.987T>C | ENSP00000354429.2:p.Ala329= | |
| ENST00000361908.7:c.1044T>C | ENSP00000354681.3:p.Ala348= | |
| ENST00000392438.7:c.933T>C | ENSP00000376233.3:p.Ala311= | |
| ENST00000475899.1:n.129T>C | ||
| ENST00000495476.1:n.454T>C | ||
| ENST00000497189.5:n.419T>C | ||
| NM_015560.2:c.933T>C , LRG_337t1:c.933T>C | NP_056375.2:p.Ala311= | |
| NM_130831.2:c.825T>C | NP_570844.1:p.Ala275= | |
| NM_130832.2:c.879T>C | NP_570845.1:p.Ala293= | |
| NM_130833.2:c.936T>C | NP_570846.1:p.Ala312= | |
| NM_130834.2:c.987T>C | NP_570847.2:p.Ala329= | |
| NM_130835.2:c.990T>C | NP_570848.1:p.Ala330= | |
| NM_130836.2:c.1044T>C | NP_570849.2:p.Ala348= | |
| NM_130837.2:c.1098T>C , LRG_337t2:c.1098T>C | NP_570850.2:p.Ala366= | |
| XM_011512863.1:c.1098T>C | XP_011511165.1:p.Ala366= | |
| XM_011512864.1:c.1044T>C | XP_011511166.1:p.Ala348= | |
| XM_011512865.1:c.987T>C | XP_011511167.1:p.Ala329= | |
| XM_011512866.1:c.936T>C | XP_011511168.1:p.Ala312= | |
| XM_011512867.1:c.933T>C | XP_011511169.1:p.Ala311= | |
| XM_011512868.1:c.825T>C | XP_011511170.1:p.Ala275= | |
| XM_011512869.1:c.1098T>C | XP_011511171.1:p.Ala366= | |
| NM_001354663.1:c.564T>C | NP_001341592.1:p.Ala188= | |
| NM_001354664.1:c.561T>C | NP_001341593.1:p.Ala187= | |
| XR_001740158.2:n.1327T>C | ||
| XR_001740159.2:n.1162T>C | ||
| NM_001354663.2:c.564T>C | NP_001341592.1:p.Ala188= | |
| NM_001354664.2:c.561T>C | NP_001341593.1:p.Ala187= | |
| NM_130831.3:c.825T>C | NP_570844.1:p.Ala275= | |
| NM_130832.3:c.879T>C | NP_570845.1:p.Ala293= | |
| NM_130834.3:c.987T>C | NP_570847.2:p.Ala329= | |
| NM_130836.3:c.1044T>C | NP_570849.2:p.Ala348= | |
| NM_015560.3:c.933T>C | NP_056375.2:p.Ala311= | |
| NM_130833.3:c.936T>C | NP_570846.1:p.Ala312= | |
| NM_130835.3:c.990T>C | NP_570848.1:p.Ala330= | |
| NM_130837.3:c.1098T>C MANE Select | NP_570850.2:p.Ala366= |