Linked Data
ClinVar Variation Id:
1027567
dbSNP Id:
rs145710079
ExAC:
3:193385045 C / T
gnomAD v2:
3-193385045-C-T
gnomAD v3:
3-193667256-C-T
gnomAD v4:
3-193667256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193667256C>T , CM000665.2:g.193667256C>T | GRCh38 |
| NC_000003.11:g.193385045C>T , CM000665.1:g.193385045C>T | GRCh37 |
| NC_000003.10:g.194867739C>T | NCBI36 |
| NG_011605.1:g.79113C>T , LRG_337:g.79113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2959C>T MANE Select | ENSP00000355324.2:p.Arg987Cys | |
| ENST00000361828.7:c.2794C>T | ENSP00000354429.3:p.Arg932Cys | |
| ENST00000361908.8:c.2905C>T | ENSP00000354681.3:p.Arg969Cys | |
| ENST00000392436.7:c.2794C>T | ENSP00000376231.3:p.Arg932Cys | |
| ENST00000392437.6:c.2848C>T | ENSP00000376232.2:p.Arg950Cys | |
| ENST00000642289.1:c.2733C>T | ||
| ENST00000642445.1:c.2794C>T | ENSP00000495535.1:p.Arg932Cys | |
| ENST00000642593.1:c.*1019C>T | ENSP00000494273.1:n.*1019C>T | |
| ENST00000643329.1:c.2476C>T | ENSP00000493673.1:p.Arg826Cys | |
| ENST00000643737.1:c.*2875C>T | ENSP00000494210.1:n.*2875C>T | |
| ENST00000644595.1:c.2794C>T | ENSP00000494121.1:p.Arg932Cys | |
| ENST00000644629.1:c.2381C>T | ||
| ENST00000644841.1:c.*1278C>T | ENSP00000493988.1:n.*1278C>T | |
| ENST00000644959.1:c.2788C>T | ||
| ENST00000645553.1:c.2809C>T | ENSP00000494725.1:p.Arg937Cys | |
| ENST00000646085.1:c.*2272C>T | ENSP00000494509.1:n.*2272C>T | |
| ENST00000646277.1:c.*1395C>T | ENSP00000495289.1:n.*1395C>T | |
| ENST00000646544.1:c.1782C>T | ||
| ENST00000646699.1:c.2733C>T | ||
| ENST00000646793.1:c.2686C>T | ENSP00000494512.1:p.Arg896Cys | |
| ENST00000361150.6:c.2797C>T | ENSP00000354781.2:p.Arg933Cys | |
| ENST00000361510.6:c.2959C>T | ENSP00000355324.2:p.Arg987Cys | |
| ENST00000361715.6:c.2851C>T | ENSP00000355311.2:p.Arg951Cys | |
| ENST00000361828.6:c.2848C>T | ENSP00000354429.2:p.Arg950Cys | |
| ENST00000361908.7:c.2905C>T | ENSP00000354681.3:p.Arg969Cys | |
| ENST00000392438.7:c.2794C>T | ENSP00000376233.3:p.Arg932Cys | |
| ENST00000429164.1:c.81C>T | ||
| ENST00000445863.1:c.370C>T | ENSP00000398358.1:p.Arg124Cys | |
| NM_015560.2:c.2794C>T , LRG_337t1:c.2794C>T | NP_056375.2:p.Arg932Cys | |
| NM_130831.2:c.2686C>T | NP_570844.1:p.Arg896Cys | |
| NM_130832.2:c.2740C>T | NP_570845.1:p.Arg914Cys | |
| NM_130833.2:c.2797C>T | NP_570846.1:p.Arg933Cys | |
| NM_130834.2:c.2848C>T | NP_570847.2:p.Arg950Cys | |
| NM_130835.2:c.2851C>T | NP_570848.1:p.Arg951Cys | |
| NM_130836.2:c.2905C>T | NP_570849.2:p.Arg969Cys | |
| NM_130837.2:c.2959C>T , LRG_337t2:c.2959C>T | NP_570850.2:p.Arg987Cys | |
| XM_011512863.1:c.2959C>T | XP_011511165.1:p.Arg987Cys | |
| XM_011512864.1:c.2905C>T | XP_011511166.1:p.Arg969Cys | |
| XM_011512865.1:c.2848C>T | XP_011511167.1:p.Arg950Cys | |
| XM_011512866.1:c.2797C>T | XP_011511168.1:p.Arg933Cys | |
| XM_011512867.1:c.2794C>T | XP_011511169.1:p.Arg932Cys | |
| XM_011512868.1:c.2686C>T | XP_011511170.1:p.Arg896Cys | |
| XR_924835.1:n.582+1664G>A | ||
| NM_001354663.1:c.2425C>T | NP_001341592.1:p.Arg809Cys | |
| NM_001354664.1:c.2422C>T | NP_001341593.1:p.Arg808Cys | |
| XR_001740158.2:n.3213C>T | ||
| XR_001740159.2:n.3048C>T | ||
| XR_001741072.1:n.600+1664G>A | ||
| XR_001741074.1:n.475+3552G>A | ||
| XR_924835.2:n.600+1664G>A | ||
| NM_001354663.2:c.2425C>T | NP_001341592.1:p.Arg809Cys | |
| NM_001354664.2:c.2422C>T | NP_001341593.1:p.Arg808Cys | |
| NM_130831.3:c.2686C>T | NP_570844.1:p.Arg896Cys | |
| NM_130832.3:c.2740C>T | NP_570845.1:p.Arg914Cys | |
| NM_130834.3:c.2848C>T | NP_570847.2:p.Arg950Cys | |
| NM_130836.3:c.2905C>T | NP_570849.2:p.Arg969Cys | |
| NM_015560.3:c.2794C>T | NP_056375.2:p.Arg932Cys | |
| NM_130833.3:c.2797C>T | NP_570846.1:p.Arg933Cys | |
| NM_130835.3:c.2851C>T | NP_570848.1:p.Arg951Cys | |
| NM_130837.3:c.2959C>T MANE Select | NP_570850.2:p.Arg987Cys |